Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy | Acta Neuropathologica Communications | Full Text

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy | Acta Neuropathologica Communications | Full Text

Acta Neuropathologica Communications

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 or...

Authors:Hormos Salimi Dafsari, Nur Mehpare Kocaturk, Hülya-Sevcan Daimagüler, Anna Brunn, Jörg Dötsch, Joachim Weis, Martina Deckert and Sebahattin Cirak

Citation:Acta Neuropathologica Communications 2019 7:211

Content type:Case report

Published on: 18 December 2019

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