A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI

We report a patient harboring a novel homozygous mutation of c.604T>G (p.F202V) in POMT2. He showed delayed psychomotor development but acquired the ability to walk at the age of 3 years and 10 months. His brain MRI was normal. No ocular abnormalities were seen. Biopsied skeletal muscle revealed...

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Main Authors: MURAKAMI, Terumi, HAYASHI, Yukiko K., OGAWA, Megumu, NOGUCHI, Satoru, CAMPBELL, Kevin P., TOGAWA, Masami, INOUE, Takehiko, OKA, Akira, OHNO, Kousaku, NONAKA, Ikuya, NISHINO, Ichizo
Formato: Artigo
Idioma:Inglês
Publicado: 2008
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2702532/
https://ncbi.nlm.nih.gov/pubmed/18804929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.braindev.2008.08.005
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