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Miyoshi muscular dystrophy

Definition:

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).

参考文献:

[1]. J Liu, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998 Sep;20(1):31-6. [Content Brief]

[2]. J Rowin, et al. Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. Neuromuscul Disord. 1999 Oct;9(6-7):417-20. [Content Brief]

[3]. Leroy Ten Dam, et al. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. Neuromuscul Disord. 2014 Dec;24(12):1097-102. [Content Brief]

[4]. Véronique Bolduc, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. [Content Brief]

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