Anzeige
Erschienen in:
01.04.2010 | Letter to the Editors
Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation
Erschienen in: Journal of Neurology | Ausgabe 4/2010
Einloggen, um Zugang zu erhaltenAbstract
Nemaline myopathy (NM) is a genetically and clinically heterogenous muscle disorder, which is myopathologically characterized by nemaline bodies [1]. Mutations in six genes have been reported to cause NM: Nebulin (NEB Pelin 1999), α-skeletal muscle actin (ACTA1 Nowak 1999), α-slow tropomyosin (TPM3 Laing 1995), β-tropomyosin (TPM2 Donner 2002), slow troponin T (TNNT1 Johnston 2000) and cofilin 2 (CFL2 Agrawal 2007) [2]. The majority of cases are due to mutation in NEB and ACTA1 [3, 4]. We report on the clinical, myopathological and muscle MRI findings in a German family with autosomal dominant NM due to a novel pathogenic TPM3 mutation (p.Ala156Thr).