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Article

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

Nature genetics - 1 Sept 1998

Vicart P, Caron A, Guicheney P, Li Z, Prévost M C, Faure A, Chateau D, Chapon F, Tomé F, Dupret J M, Paulin D, Fardeau M

Abstract excerpt

Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a large French pedigree to a 26-cM interval in chromosome 11q21-23. This region contains the...

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PMID: 9731540
DOI: 10.1038/1765

Genes

CRYAB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.PMID 9731540Read ↗

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Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.Semantic proximity Read ↗

Desmin myopathy.Semantic proximity Read ↗

Expression of R120G–αB-Crystallin Causes Aberrant Desmin and αB-Crystallin Aggregation and Cardiomyopathy in MiceSemantic proximity Read ↗

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.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 ↗

Molecular mechanisms of α-crystallinopathy and its therapeutic strategy.Semantic proximity Read ↗

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Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in <i>DNAJB4</i>Semantic proximity Read ↗

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.Semantic proximity Read ↗

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