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

• Main Authors: Jean Mamelona (Author), Louisa Filice (Author), Youcef Oussedik (Author), Nicolas Crapoulet (Author), Rodney J. Ouellette (Author), Alier Marrero (Author)
• Format: Bog
• Udgivet: BMC, 2019-05-01T00:00:00Z.
• Fag: 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...