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01-01-2013 | Correspondence

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

Authors: Giorgio Tasca, Fabiana Fattori, Enzo Ricci, Mauro Monforte, Valentina Rizzo, Eugenio Mercuri, Enrico Bertini, Gabriella Silvestri

Published in: Acta Neuropathologica | Issue 1/2013

Excerpt

The TPM2 gene encodes for beta-tropomyosin. Dominant mutations in TPM2 are associated with different congenital myopathies, including nemaline and cap myopathy [8]. In one family, a TPM2 mutation (p.Glu41Lys) has been reported to cause a myopathy with nemaline rods in the mother and cap structures in the daughter [7]. We describe a family with two siblings affected by congenital myopathy showing both rods and cap-like structures caused by a TPM2 mutation. Their clinically asymptomatic father was a somatic mosaic for the mutation. …

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Title: Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures
Authors: Giorgio Tasca
Fabiana Fattori
Enzo Ricci
Mauro Monforte
Valentina Rizzo
Eugenio Mercuri
Enrico Bertini
Gabriella Silvestri
Publication date: 01-01-2013
Publisher: Springer-Verlag
Published in: Acta Neuropathologica / Issue 1/2013
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-012-1049-6

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Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

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