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Article

Dominant collagen XII mutations cause a distal myopathy

11 Sept 2019

Abstract excerpt

OBJECTIVE: To characterize the natural history and clinical features of myopathies caused by mono-allelic, dominantly acting pathogenic variants in COL12A1. METHODS: Patients with dominant COL12A1-related myopathies were characterized by history and clinical examination, muscle imaging, and genetic analysis. Pathogenicity of the variants was assessed by immunostaining patient-derived dermal fibroblast cultures...

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PMID: 31509352
DOI: 10.1002/acn3.50882

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