Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

Congenital myopathies (CM) form a genetically heterogeneous group of disorders characterized by perinatal muscle weakness. Here, we report an 11-year old male offspring of consanguineous parents of Lebanese origin. He presented with proximal weakness including Gower’s sign, and skeletal muscle biops...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol Commun
Main Authors: Dafsari, Hormos Salimi, Kocaturk, Nur Mehpare, Daimagüler, Hülya-Sevcan, Brunn, Anna, Dötsch, Jörg, Weis, Joachim, Deckert, Martina, Cirak, Sebahattin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6921565/
https://ncbi.nlm.nih.gov/pubmed/31852522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-019-0869-1
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