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Article

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.

Neuromuscular disorders : NMD - 1 Apr 2010

Reilich Peter, Schoser Benedikt, Schramm Nicolai, Krause Sabine, Schessl Joachim, Kress Wolfram, Müller-Höcker Josef, Walter Maggie C, Lochmuller Hanns

Abstract excerpt

Mutations in alpha-B crystallin gene (CRYAB) have been described to cause congenital cataracts, dilated cardiomyopathy and myofibrillar myopathy. For skeletal myopathy, only three different mutations have been reported within the last decade. Here we describe for the first time the missense mutat...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20171888
DOI: 10.1016/j.nmd.2010.01.012

Genes

CRYAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20171888-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.PMID 20171888Read ↗

Myopathy-associated G154S mutation causes important changes in the conformational stability, amyloidogenic properties, and chaperone-like activity of human αB-crystallin.Semantic proximity Read ↗

CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.Semantic proximity Read ↗

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Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.Semantic proximity Read ↗

Unveiling the structural and functional consequences of the p.D109G pathogenic mutation in human αB-Crystallin responsible for restrictive cardiomyopathy and skeletal myopathy.Semantic proximity Read ↗

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alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands.Semantic proximity Read ↗

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Structural and functional characterization of D109H and R69C mutant versions of human αB-crystallin: The biochemical pathomechanism underlying cataract and myopathy development.Semantic proximity Read ↗

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