학술논문
Novel DYSF mutations in Thai patients with distal myopathy
Document Type
Article
Author
Liewluck, Teerin; Pongpakdee, Sunsanee; Witoonpanich, Rawiphan; Sangruchi, Tumtip; Pho-iam, Theeraphong; Limwongse, Chanin; Thongnoppakhun, Wanna; Boonyapisit, Kanokwan; Sopassathit, Varisa; Phudhichareonrat, Suchart; Suthiponpaisan, Udom; Raksadawan, Natte; Goto, Kanako; Hayashi, Yukiko K.; Nishino, Ichizo
Source
Subject
*GENETIC mutation
*MUSCLE diseases
*ADENOSINE triphosphatase
*CREATINE kinase
*NERVE fibers
*NEUROLOGY
*REVERSE transcriptase polymerase chain reaction
*PATIENTS
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Language
ISSN
0303-8467
Abstract
Abstract: 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. Herein, we report five Thai patients with distal myopathy due to dysferlinopathy including four MM and one DMAT patients. Muscle biopsy from one MM patient depicted numerous ring fibers which is an atypical finding in dysferlinopathy. Mutation analysis of DYSF revealed novel compound heterozygous mutations of p.Tyr309X and c.236+1G>T in two related MM patients, known homozygous mutations, p.Arg89X and p.Gln176X, in two MM patients and a heterozygous missense mutation, p.Arg555Trp, in a DMAT patient. Most of the previously reported DMAT patients were Hispanic. To the best of our knowledge, this is the first report of genetically confirmed patients with dysferlinopathy in Thailand. [Copyright &y& Elsevier]