The distal myopathies
Author:
Publisher
Elsevier
Reference83 articles.
1. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998
2. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001
3. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin;Hackman;Am J Hum Genet,2002
4. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1);Meredith;Am J Hum Genet,2004
5. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1;Hackman;Ann Neurol,2013
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