Article
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
Journal of neurology - 1 Aug 2011
Reilich Peter, Krause Sabine, Schramm Nicolai, Klutzny Ursula, Bulst Stefanie, Zehetmayer Barbara, Schneiderat Peter, Walter Maggie C, Schoser Benedikt, Lochmüller Hanns
Abstract excerpt
Here we describe a patient with limb girdle muscular dystrophy 1A (LGMD1A) due to a novel myotilin gene (MYOT) mutation with late onset, rapid progression, loss of ambulation and respiratory failure. The onset of weakness in proximal muscles and muscle MRI findings are clearly different from the pattern identified in myofibrillar myopathies (MFM) related to MYOT mutations. Moreover, there was very limited...
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