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Ullrich congenital muscular dystrophy 1
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- ... for Rare Disorders (NORD) BETHLEM MYOPATHY 1A; BTHLM1A ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A PubMed Allamand V, Brinas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30. ...
- The COL6A1 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. ...
- ... collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2): ... 99. doi: 10.1007/978-94-007-7893-1_12. Citation on PubMed
- ... collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2): ... 99. doi: 10.1007/978-94-007-7893-1_12. Citation on PubMed
- Find a Neuromuscular Disease (Muscular Dystrophy Association)MDA is the #1 health nonprofit advancing research, care and advocacy for people living with muscular dystrophy, ALS, and related neuromuscular diseases.