Journal
JOURNAL OF NEUROLOGY
Volume 257, Issue 4, Pages 658-660Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-009-5413-y
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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).
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