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

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 cardiomyo...

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Vydáno v:BMC Med Genet
Hlavní autoři: Mamelona, Jean, Filice, Louisa, Oussedik, Youcef, Crapoulet, Nicolas, Ouellette, Rodney J., Marrero, Alier
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6507130/
https://ncbi.nlm.nih.gov/pubmed/31068177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0804-0
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