Article
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Human molecular genetics - 15 Nov 2015
Yuen Michaela, Cooper Sandra T, Marston Steve B, Nowak Kristen J, McNamara Elyshia, Mokbel Nancy, Ilkovski Biljana, Ravenscroft Gianina, Rendu John, de Winter Josine M, Klinge Lars, Beggs Alan H, North Kathryn N, Ottenheijm Coen A C, Clarke Nigel F
Abstract excerpt
Dominant mutations in TPM3, encoding α-tropomyosinslow, cause a congenital myopathy characterized by generalized muscle weakness. Here, we used a multidisciplinary approach to investigate the mechanism of muscle dysfunction in 12 TPM3-myopathy patients. We confirm that slow myofibre hypotrophy is a diagnostic hallmark of TPM3-myopathy, and is commonly accompanied by skewing of fibre-type ratios (either slow or...
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