Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies (Q38089840)

28 August 2017

title

Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies (English)

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28 August 2017

1

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28 August 2017

Susana Teijeira

2

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28 August 2017

language of work or name

English

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publication date

1 November 2009

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Expert Opinion on Medical Diagnostics

28 August 2017

number of pages

17

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based on heuristic

inferred from page(s)

published in

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28 August 2017

volume

3

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28 August 2017

issue

6

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28 August 2017

page(s)

631-647

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On the classification, natural history and treatment of the myopathies.

28 August 2017

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

21 January 2018

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Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

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21 January 2018

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Making sense of the limb-girdle muscular dystrophies

21 January 2018

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

21 January 2018

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Association of dystrophin and an integral membrane glycoprotein.

21 January 2018

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Membrane organization of the dystrophin-glycoprotein complex

21 January 2018

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Direct observation of failing fibers in muscles of dystrophic mice provides mechanistic insight into muscular dystrophy.

21 January 2018

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

21 January 2018

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

21 January 2018

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

21 January 2018

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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530050903313988

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Muscle MRI in inherited neuromuscular disorders: past, present, and future

21 January 2018

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530050903313988

Duchenne dystrophy: Electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567,000 muscle fibers in 114 biopsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Dysferlin and the plasma membrane repair in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Dysferlin and muscle membrane repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

The earliest pathologic alterations in dysferlinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

A new phenotype of dysferlinopathy with congenital onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Crowded little caves: structure and function of caveolae

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Caveolin-3 associates with developing T-tubules during muscle differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Caveolin-3 in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Molecular and muscle pathology in a series of caveolinopathy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Consequences of a novel caveolin-3 mutation in a large German family

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Phenotypic variability in a Spanish family with a Caveolin-3 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

21 January 2018

1 reference

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The 10 autosomal recessive limb-girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Unusual type of benign x-linked muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

"Laminopathies": a wide spectrum of human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Nuclear lamins, diseases and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

De novo LMNA mutations cause a new form of congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Muscular dystrophy with separate clinical phenotypes in a large family

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Myotilin is mutated in limb girdle muscular dystrophy 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Telethonin and other new proteins of the Z-disc of skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Myotilinopathy: refining the clinical and myopathological phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Molecular pathology of myofibrillar myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

The congenital muscular dystrophies in 2004: a century of exciting progress

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

21 January 2018

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

21 January 2018

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Limb-girdle muscular dystrophies--from genetics to molecular pathology

21 January 2018

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Multiplex Western blotting system for the analysis of muscular dystrophy proteins

21 January 2018

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Localization of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles, and in prol

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530050903313988

Limb–girdle muscular dystrophies

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530050903313988

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530050903313988

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530050903313988

International workshop: Glycosylation defects in muscular dystrophies – Enhancing glycosylation to fight muscle diseases, 15–16 May, 2008, Charlotte, USA

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530050903313988

10.1517/17530050903313988

21 January 2018

Identifiers

DOI

1 reference

28 August 2017

1 reference