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

• Päätekijät: Jean Mamelona (Tekijä), Louisa Filice (Tekijä), Youcef Oussedik (Tekijä), Nicolas Crapoulet (Tekijä), Rodney J. Ouellette (Tekijä), Alier Marrero (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2019-05-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

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...