Genetic diseases of muscle (Q34997853)

5 August 2017

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title

Genetic diseases of muscle (English)

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5 August 2017

Kathryn R Wagner

1

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5 August 2017

publication date

1 August 2002

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5 August 2017

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5 August 2017

volume

20

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5 August 2017

issue

3

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5 August 2017

page(s)

645-678

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Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

5 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

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7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Glycogen storage myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The molecular diagnosis of metabolic myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Metabolic myopathies. A diagnostic evaluation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Prednisone in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Dystrophinopathy in isolated cases of myopathy in females

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Prospective study of X-linked progressive muscular dystrophy in Campania

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Cardiac involvement in primary myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Cognitive impairment in Duchenne muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Myotilin is mutated in limb girdle muscular dystrophy 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Caveolin-3 in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The clinical spectrum of sarcoglycanopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Calpainopathy-a survey of mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Calpains and muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Making sense of the limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The heart in limb girdle muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Identification of the Syrian hamster cardiomyopathy gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Hearing loss in facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Nuclear inclusions in oculopharyngeal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Triplet repeat expansion in neuromuscular disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Myotonic dystrophy--a multigene disorder.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The Fukuyama congenital muscular dystrophy story

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Malignant hyperthermia and central core disease: disorders of Ca2+ release channels

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

1 reference

7 January 2021

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Nemaline myopathy: a clinical study of 143 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Overview of distal myopathies: from the clinical to the molecular

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Genetic linkage of Welander distal myopathy to chromosome 2p13

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Late onset hereditary distal myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

1 reference

7 January 2021

Distal myopathy with rimmed vacuole formation. A follow-up study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6

7 January 2021

10.1016/S0733-8619(02)00002-6

Identifiers

DOI

1 reference

5 August 2017

1 reference