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A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
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
  • Murakami T; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.
Brain Dev ; 31(6): 465-8, 2009 Jun.
Article in En | MEDLINE | ID: mdl-18804929
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Developmental Disabilities / Mannosyltransferases / Muscular Dystrophies / Mutation Type of study: Etiology_studies Limits: Child, preschool / Humans / Male Language: En Journal: Brain Dev Year: 2009 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Developmental Disabilities / Mannosyltransferases / Muscular Dystrophies / Mutation Type of study: Etiology_studies Limits: Child, preschool / Humans / Male Language: En Journal: Brain Dev Year: 2009 Document type: Article Affiliation country: Country of publication: