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Article

Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family.

Journal of clinical neuromuscular disease - 1 Mar 2021

Mihaylova Violeta, Chablais Fabian, Bremer Juliane, Guggenberger Roman, Rushing Elisabeth J, Bethge Tobias, Spiegel Roland, Jung Hans-Heinrich

Abstract excerpt

ABSTRACT: Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously...

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Identifiers

PMID: 33596003
DOI: 10.1097/CND.0000000000000320

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