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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. Liu J, et al. Among authors: illa i. Nat Genet. 1998 Sep;20(1):31-6. doi: 10.1038/1682. Nat Genet. 1998. PMID: 9731526
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr. Aoki M, et al. Among authors: illa i. Neurology. 2001 Jul 24;57(2):271-8. doi: 10.1212/wnl.57.2.271. Neurology. 2001. PMID: 11468312
Limb-girdle muscular dystrophy 2A.
Gallardo E, Saenz A, Illa I. Gallardo E, et al. Among authors: illa i. Handb Clin Neurol. 2011;101:97-110. doi: 10.1016/B978-0-08-045031-5.00006-2. Handb Clin Neurol. 2011. PMID: 21496626 Review.
273 results