Clinical and mutation analysis of a Chinese family with muscle-eye-brain disease

Chinese Journal of Medical Genetics

Volumn 28, Issue 5, 2011, Pages 481-484

  Jiao, Hui ^a   Xiong, Hui ^a   Zhang, Yan Zhi ^a   Wang, Shuo ^a   Yang, Yan Ling ^a   Wu, Xi Ru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Clinical analysis; Congenital muscular dystrophy; Muscle eye brain disease; Mutation; POMGNT1 gene

Indexed keywords

CREATINE KINASE; GENOMIC DNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN DISEASE; CASE REPORT; CEREBELLUM DISEASE; CHILD; CHINESE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DNA SEQUENCE; EXON; FAMILY STUDY; GENE; GENE MUTATION; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; POMGNT1 GENE;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BRAIN; CHILD, PRESCHOOL; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PHENOTYPE; SEQUENCE ALIGNMENT; WALKER-WARBURG SYNDROME;

EID: 80155139652     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2011.05.001     Document Type: Article

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