Miyoshi muscular dystrophy (MMD) is a rare autosomal recessive distal myopathy characterized by weakness and atrophy that begins in the posterior compartment muscles of the legs. The onset of symptoms is in young adulthood and often begins with the inability to toe walk. Miyoshi muscular dystrophy 1 (MMD1) is caused by mutations in the dysferlin gene. Recently, anoctamin 5 (ANO5) was also identified, causing Miyoshi muscular dystrophy 3 (MMD3).
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
タイトル
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B
タイトル
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
