A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

Abstract Background Few manuscripts have reported phenotypes of skeletal muscle myopathies caused by mutations in the head region of slow/cardiac beta-myosin heavy chain (MyHCI). Among the patients, some of them showed the phenotype of skeletal muscle weakness with the obvious clinical features of c...

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Bibliographic Details
Main Authors: Jean Mamelona, Louisa Filice, Youcef Oussedik, Nicolas Crapoulet, Rodney J. Ouellette, Alier Marrero
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Slow/cardiac beta-myosin heavy chain
Myosin storage myopathy
MYH7
Missense mutation
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-019-0804-0

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http://link.springer.com/article/10.1186/s12881-019-0804-0

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