Article
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
Annals of neurology - 1 Feb 2016
Park Hyung Jun, Hong Young Bin, Choi Young-Chul, Lee Jinho, Kim Eun Ja, Lee Ji-Su, Mo Won Min, Ki Soo Mi, Kim Hyo In, Kim Hye Jin, Hyun Young Se, Hong Hyun Dae, Nam Kisoo, Jung Sung Chul, Kim Sang-Beom, Kim Se Hoon, Kim Deok-Ho, Oh Ki-Wook, Kim Seung Hyun, Yoo Jeong Hyun, Lee Ji Eun, Chung Ki Wha, Choi Byung-Ok
Abstract excerpt
OBJECTIVE: Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. A study was done to identify the underlying cause of autosomal recessive adolescent onset distal myopathy. METHODS: Four patients from 2 unrelated Korean families were evaluated. To isolate the genetic cause, exome sequencing was performed. In vitro and in vivo assays using myoblast cells...
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