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01-04-2010 | Letter to the Editors

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

Authors: I. C. Kiphuth, S. Krause, H. B. Huttner, G. Dekomien, T. Struffert, R. Schröder

Published in: Journal of Neurology | Issue 4/2010

Abstract

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).

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Title: Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation
Authors: I. C. Kiphuth
S. Krause
H. B. Huttner
G. Dekomien
T. Struffert
R. Schröder
Publication date: 01-04-2010
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 4/2010
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-009-5413-y

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

Abstract

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Abstract

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