Novel FHL1 mutation in a family with reducing body myopathy

Novel FHL1 mutation in a family with reducing body myopathy

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).

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Veröffentlicht in:Muscle & Nerve 2013-01, Vol.47 (1), p.127-134
Hauptverfasser: Schreckenbach, Tobias, Henn, Wolfram, Kress, Wolfram, Roos, Andreas, Maschke, Matthias, Feiden, Wolfgang, Dillmann, Ulrich, Schulz, Jörg B, Weis, Joachim, Claeys, Kristl
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Sprache:eng
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Zusammenfassung: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).
ISSN:0148-639X