Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients

Molecular Genetics and Genomics

Volumn 288, Issue 7-8, 2013, Pages 297-308

  Jiao, Hui ^a   Manya, Hiroshi ^b   Wang, Shuo ^a   Zhang, Yanzhi ^a   Li, Xiaoqing ^a   Xiao, Jiangxi ^a   Yang, Yanling ^a   Kobayashi, Kazuhiro ^c   Toda, Tatsushi ^c   Endo, Tamao ^b   Wu, Xiru ^a   Xiong, Hui ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b Tokyo Metropolitan Institute of Gerontology   (Japan)

^c KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

dystroglycanopathy; Enzyme activity; Muscle eye brain disease; POMGnT1 mutation

Indexed keywords

CREATINE KINASE;

ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM TUMOR; CHILD; CHINESE; CLINICAL FEATURE; CODON; CREATINE KINASE BLOOD LEVEL; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; EXON; FEEDING DISORDER; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MALE; MENTAL DEFICIENCY; MICROGYRIA; MISSENSE MUTATION; MUSCLE EYE BRAIN DISEASE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; MYOPIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PATHOGENESIS; POMGNT1 GENE; PRIORITY JOURNAL; SCHOOL CHILD; STRABISMUS;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BRAIN; CHILD; CHILD, PRESCHOOL; CHINA; ENZYME ACTIVATION; FACIES; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; PHENOTYPE; PRENATAL DIAGNOSIS; SEQUENCE ALIGNMENT; WALKER-WARBURG SYNDROME;

EID: 84881144042     PISSN: 16174615     EISSN: 16174623     Source Type: Journal    
DOI: 10.1007/s00438-013-0749-5     Document Type: Article

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