title: A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
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.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.
authors.forename: Terumi
authors.initials: T
authors.lastname: Murakami
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Megumu
authors.initials: M
authors.lastname: Ogawa
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.forename: Kevin P
authors.initials: KP
authors.lastname: Campbell
authors.forename: Masami
authors.initials: M
authors.lastname: Togawa
authors.forename: Takehiko
authors.initials: T
authors.lastname: Inoue
authors.forename: Akira
authors.initials: A
authors.lastname: Oka
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D001706:Biopsy; D001921:Brain / Q000254:growth & development* / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D049030:Dystroglycans / Q000172:deficiency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D005819:Genetic Markers; D049030:Dystroglycans; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase