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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References
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Acknowledgments
S.K., G.D. and R.S. are members of the German muscular dystrophy network (MD-NET, 01GM0601; http://www.md-net.org) funded by the German Ministry of Education and Research (BMBF, Bonn, Germany). MD-NET is the German partner of the EU Network of Excellence TREAT-NMD (EC, 6th FP, proposal #036825; http://www.treat-nmd.eu).
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I. C. Kiphuth, S. Krause contributed equally to this work.
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Kiphuth, I.C., Krause, S., Huttner, H.B. et al. Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation. J Neurol 257, 658–660 (2010). https://doi.org/10.1007/s00415-009-5413-y
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DOI: https://doi.org/10.1007/s00415-009-5413-y