References
Cassandrini D, Calevo MG, Tessa A et al (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. Biochem Biophys Res Commun 342:387–393
Clarke NF (2011) Congenital fiber-type disproportion. Semin Pediatr Neurol 18:264–271
Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN (2009) Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscul Disord 19:348–351
Goebel HH (2007) Cap disease uncapped. Neuromuscul Disord 17:429–432
Lehtokari VL, Ceuterick-de Groote C, de Jonghe P et al (2007) Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 17:433–442
Scoto M, Cirak S, Mein R et al (2011) SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 76:2073–2078
Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A (2007) Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). Arch Neurol 64:1334–1338
Tajsharghi H, Ohlsson M, Palm L, Oldfors A (2012) Myopathies associated with β-tropomyosin mutations. Neuromuscul Disord. doi:10.1016/j.nmd.2012.05.018
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Tasca, G., Fattori, F., Ricci, E. et al. Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures. Acta Neuropathol 125, 169–171 (2013). https://doi.org/10.1007/s00401-012-1049-6
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DOI: https://doi.org/10.1007/s00401-012-1049-6