Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

ABSTRACT:

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 were detected in 32 of 85 patients of the Mayo MFM cohort. Bag3, another Z-disk-associated protein, has antiapoptotic properties, and its targeted deletion in mice causes fulminant myopathy with early lethality. We therefore searched for mutations in BAG3 in 53 unrelated MFM patients.

Methods

We searched for mutations in BAG3 by direct sequencing. We analyzed structural

SUBMITTER: Selcen D 

PROVIDER: S-EPMC2639628 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature