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Article

FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.

Journal of cell science - 15 May 2014

Wilding Brendan R, McGrath Meagan J, Bonne Gisèle, Mitchell Christina A

Abstract excerpt

FHL1 mutations cause several clinically heterogeneous myopathies, including reducing body myopathy (RBM), scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). The molecular mechanisms underlying the pathogenesis of FHL1 myopathies are unknown. Protein aggregates, designated 'reducing bodies', that contain mutant FHL1 are detected in RBM muscle but not in several other FHL1...

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Share to Cell Differentiation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24634512
DOI: 10.1242/jcs.140905

Genes

FHL1

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