Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation

作者：Kiphuth I C; Krause S; Huttner H B; Dekomien G; Struffert T; Schroeder R^*

来源：Journal of Neurology, 2010, 257(4): 658-660.

DOI：10.1007/s00415-009-5413-y

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), alpha-skeletal muscle actin (ACTA1 Nowak 1999), alpha-slow tropomyosin (TPM3 Laing 1995), beta-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).

• 出版日期2010-4