jueves, 26 de diciembre de 2019

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

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: 

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