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Novel FHL1 mutation in a family with reducing body myopathy

21 Nov 2012

Abstract excerpt

INTRODUCTION: Reducing body myopathy is a rare X-linked myopathy. It is characterized by intracytoplasmic inclusions that stain with menadione-nitroblue tetrazolium. It is caused by mutations in the FHL1 gene, which encodes the four-and-a-half LIM domain 1 protein (FHL1). METHODS: We performed a clinical, muscle MRI, and histopathological characterization and immunoblot and genetic analysis of the FHL1 protein in...

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PMID: 23169582
DOI: 10.1002/mus.23500

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