@article{mihaylova_collagen_2021,
	title = {Collagen {VI}-{Related} {Myopathy} {Caused} by {Compound} {Heterozygous} {Mutations} of {COL6A3} in a {Consanguineous} {Kurdish} {Family}},
	volume = {22},
	issn = {1537-1611},
	doi = {10.1097/CND.0000000000000320},
	abstract = {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 described missense mutation c.7447A {\textgreater} G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1-39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenotype of the collagen VI-related myopathies.},
	language = {eng},
	number = {3},
	journal = {Journal of Clinical Neuromuscular Disease},
	author = {Mihaylova, Violeta and Chablais, Fabian and Bremer, Juliane and Guggenberger, Roman and Rushing, Elisabeth J. and Bethge, Tobias and Spiegel, Roland and Jung, Hans-Heinrich},
	month = mar,
	year = {2021},
	pmid = {33596003},
	pages = {173--179},
}

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