Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

Published:2016-03-22 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Astrea Guja,Petrucci Antonio,Cassandrini Denise,Savarese Marco,Trovato Rosanna,Lispi Ludovico,Rubegni Anna,Giacanelli Manlio,Massa Roberto,Nigro Vincenzo,Santorelli Filippo M.

Funder

Fondazione Telethon

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0288-0

Reference12 articles.

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3. Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology. 2010;75:732–41.

4. Darin N, Tajsharghi H, Östman-Smith I, Gilljam T, Oldfors A. New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. Neurology. 2007;68:2041–2.

5. Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, Delisle MB. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793Pro mutation. Neuromuscul Disord. 2009;19:163–6.

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