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Novel DYSF mutations in Thai patients with distal myopathy
Clinical Neurology and Neurosurgery, 07/29/09
Liewluck T et al. – Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin–encoding gene, DYSF. It encompasses limb–girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular dystrophy. This is the first report of genetically confirmed patients with dysferlinopathy in Thailand.
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