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A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI |
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| 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 |
| Affiliation: | Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan. |
| Abstract: | 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. |
| Keywords: | POMT2 α-Dystroglycan α-Dystroglycanopathy Congenital muscular dystrophy Limb girdle muscular dystrophy Brain MRI |
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