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Article

A novel CRYAB mutation resulting in multisystemic disease.

Neuromuscular disorders : NMD - 1 Jan 2012

Sacconi Sabrina, Féasson Léonard, Antoine Jean Christophe, Pécheux Christophe, Bernard Rafaelle, Cobo Ana Maria, Casarin Alberto, Salviati Leonardo, Desnuelle Claude, Urtizberea Andoni

Abstract excerpt

Mutations in the CRYAB gene, encoding alpha-B crystallin, cause distinct clinical phenotypes including isolated posterior polar cataract, myofibrillar myopathy, cardiomyopathy, or a multisystemic disorder combining all these features. Genotype/phenotype correlations are still unclear. To date, multisystemic involvement has been reported only in kindred harboring the R120G substitution. We report a novel CRYAB...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21920752
DOI: 10.1016/j.nmd.2011.07.004

Genes

CRYAB

Variants

Provenance

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