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Article

Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

Annals of neurology - 1 Jan 2009

Selcen Duygu, Muntoni Francesco, Burton Barbara K, Pegoraro Elena, Sewry Caroline, Bite Anna V, Engel Andrew G

Abstract excerpt

OBJECTIVE: Myofibrillar myopathies (MFMs) are morphologically distinct but genetically heterogeneous muscular dystrophies in which disintegration of Z disks and then of myofibrils is followed by ectopic accumulation of multiple proteins. Cardiomyopathy, neuropathy, and dominant inheritance are frequent associated features. Mutations in alphaB-crystallin, desmin, myotilin, Zasp, or filamin-C can cause MFMs and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19085932
DOI: 10.1002/ana.21553
PMCID: PMC2639628

Genes

BAG3

Variants

Provenance

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Related research

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