Article
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.
Neuromuscular disorders : NMD - 1 May 2013
Feldkirchner Sarah, Walter Maggie C, Müller Stefan, Kubny Christiana, Krause Sabine, Kress Wolfram, Hanisch Franz-Georg, Schoser Benedikt, Schessl Joachim
Abstract excerpt
Myopathies associated with mutations in FHL1 are rare X-linked dominant myofibrillar myopathies. By clinical examination, histopathology, Sanger sequencing, and laser microdissection combined with quantitative mass spectrometry, we were able to identify the causative gene mutation and protein aggregate composition in two brothers with a late-onset X-linked scapulo-axio-peroneal myopathy. The severely progressive...
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