Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea

Neuromuscular Disorders

Volumn 20, Issue 8, 2010, Pages 524-530

  Lim, Bung Chan ^a   Ki, Chang Seok ^b   Kim, Jong Won ^b   Cho, Anna ^a   Kim, Min Jung ^a   Hwang, Hee ^a   Kim, Ki Joong ^a   Hwang, Yong Seung ^a   Park, Woong Yang ^c   Lim, Yun Jung ^a   Kim, In One ^a   Lee, Jun Su ^d   Chae, Jong Hee ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Seoul National University College of Medicine   (South Korea)

^d Yonsei University College of Medicine   (South Korea)

Author keywords

Congenital; Dystroglycan; Muscular dystrophy; Mutation

Indexed keywords

ALPHA DYSTROGLYCAN; FUKUTIN;

AGYRIA; ARTICLE; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MICROGYRIA; MUSCLE EYE BRAIN DISEASE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PONS HYPOPLASIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; RETROTRANSPOSAL INSERTION MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SOUTH KOREA;

BRAIN; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; EXONS; FEMALE; GENE FREQUENCY; GLYCOSYLATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTAGENESIS, INSERTIONAL; PHENOTYPE; REPUBLIC OF KOREA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 77955281904     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.06.005     Document Type: Article

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