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

• Главные авторы: Jean Mamelona (Автор), Louisa Filice (Автор), Youcef Oussedik (Автор), Nicolas Crapoulet (Автор), Rodney J. Ouellette (Автор), Alier Marrero (Автор)
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• Опубликовано: BMC, 2019-05-01T00:00:00Z.
• Предметы: article
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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...