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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table B.

OMIM Entries for Collagen VI-Related Dystrophies (View All in OMIM)

120220COLLAGEN, TYPE VI, ALPHA-1; COL6A1
120240COLLAGEN, TYPE VI, ALPHA-2; COL6A2
120250COLLAGEN, TYPE VI, ALPHA-3; COL6A3
158810BETHLEM MYOPATHY 1A; BTHLM1A
254090ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A
255600MYOSCLEROSIS, AUTOSOMAL RECESSIVE
620725BETHLEM MYOPATHY 1B; BTHLM1B
620726BETHLEM MYOPATHY 1C; BTHLM1C
620727ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B; UCMD1B
620728ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C; UCMD1C

From: Collagen VI-Related Dystrophies

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