Article
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.
Neuromuscular disorders : NMD - 1 May 2017
Kadoya Masato, Ogata Katsuhisa, Suzuki Mikiya, Honma Yutaka, Momma Kazunari, Yatabe Kana, Tamura Takuhisa, Kaida Kenichi, Miyata Naomasa, Nishino Ichizo, Nonaka Ikuya, Kawai Mitsuru
Abstract excerpt
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase...
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