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Merck

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

Brain & development (2008-09-23)
Terumi Murakami, Yukiko K Hayashi, Megumu Ogawa, Satoru Noguchi, Kevin P Campbell, Masami Togawa, Takehiko Inoue, Akira Oka, Kousaku Ohno, Ikuya Nonaka, Ichizo Nishino
RÉSUMÉ

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 markedly decreased but still detectable glycosylated forms of alpha-dystroglycan (alpha-DG). Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy. Presence of small amounts of partly glycosylated alpha-DG may have a role in reducing the clinical symptoms of alpha-dystroglycanopathy.