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Article

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

Acta neuropathologica communications - 18 Dec 2019

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

Abstract excerpt

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 biopsy revealed myopathic changes with core-like structures. Whole exome sequencing of this index patient lead to the...

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Alleles
Amino Acid Sequence
Child
Molecular Chaperones
Muscular Diseases

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PMID: 31852522
DOI: 10.1186/s40478-019-0869-1
PMCID: PMC6921565

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