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Article

Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.

Neuromuscular disorders : NMD - 1 Feb 2016

Brady L, Giri M, Provias J, Hoffman E, Tarnopolsky M

Abstract excerpt

We recently evaluated two of the original three patients (siblings) diagnosed with Proximal Myopathy with Focal Depletion of Mitochondria. The condition was named for the distinctive pattern of enlarged mitochondria around the periphery of muscle fibres with a complete absence in the middle. These siblings, aged 37 and 40, are cognitively normal with mild non-progressive muscle weakness and a susceptibility to...

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Identifiers

PMID: 26782016
DOI: 10.1016/j.nmd.2015.11.002

Genes

CHKB

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