What's new in neuromuscular disorders? The congenital myopathies (Q35077032)

6 August 2017

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title

What's new in neuromuscular disorders? The congenital myopathies (English)

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6 August 2017

3

Francesco Muntoni

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6 August 2017

1

Heinz Jungbluth

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6 August 2017

Caroline A Sewry

2

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6 August 2017

publication date

1 January 2003

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European Journal of Paediatric Neurology

6 August 2017

published in

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6 August 2017

volume

7

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6 August 2017

issue

1

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6 August 2017

page(s)

23-30

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A new congenital non-progressive myopathy

6 August 2017

cites work

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7 January 2021

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

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7 January 2021

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7 January 2021

Congenital myopathy with excess of thin myofilaments

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

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7 January 2021

Fetal akinesia sequence caused by nemaline myopathy

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

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%2FS1090-3798%2802%2900136-8

7 January 2021

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Nebulin mutations in autosomal recessive nemaline myopathy: an update

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Nebulin expression in patients with nemaline myopathy

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Expression of cytoskeleton proteins in central core disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

The role of immunocytochemistry in congenital myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Fifty year follow-up of a patient with central core disease shows slow but definite progression

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Assignment of the gene for central core disease to chromosome 19

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Genetics and pathogenesis of malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Biochemistry and biophysics of excitation-contraction coupling

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Structure and function of ryanodine receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Cross-linking analysis of the ryanodine receptor and alpha1-dihydropyridine receptor in rabbit skeletal muscle triads.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

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%2FS1090-3798%2802%2900136-8

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%2FS1090-3798%2802%2900136-8

7 January 2021

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Common origin of rods, cores, miniature cores, and focal loss of cross-striations

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Minicore myopathy in children: a clinical and histopathological study of 19 cases.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

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%2FS1090-3798%2802%2900136-8

7 January 2021

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

X-linked myotubular myopathy--a long-term follow-up study

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https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Medical complications in long-term survivors with X-linked myotubular myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

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%2FS1090-3798%2802%2900136-8

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%2FS1090-3798%2802%2900136-8

7 January 2021

MTM1 mutations in X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

72nd ENMC International Workshop: myotubular myopathy 1-3 October 1999, Hilversum, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900136-8

7 January 2021

10.1016/S1090-3798(02)00136-8

Identifiers

DOI

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6 August 2017

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