Article
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Brain : a journal of neurology - 1 Feb 2013
Mokbel Nancy, Ilkovski Biljana, Kreissl Michaela, Memo Massimiliano, Jeffries Cy M, Marttila Minttu, Lehtokari Vilma-Lotta, Lemola Elina, Grönholm Mikaela, Yang Nan, Menard Dominique, Marcorelles Pascale, Echaniz-Laguna Andoni, Reimann Jens, Vainzof Mariz, Monnier Nicole, Ravenscroft Gianina, McNamara Elyshia, Nowak Kristen J, Laing Nigel G, Wallgren-Pettersson Carina, Trewhella Jill, Marston Steve, Ottenheijm Coen, North Kathryn N, Clarke Nigel F
Abstract excerpt
Mutations in the TPM2 gene, which encodes β-tropomyosin, are an established cause of several congenital skeletal myopathies and distal arthrogryposis. We have identified a TPM2 mutation, p.K7del, in five unrelated families with nemaline myopathy and a consistent distinctive clinical phenotype. Patients develop large joint contractures during childhood, followed by slowly progressive skeletal muscle weakness...
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