Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama Congenital Muscular Dystrophy (FCMD) patient

American Journal of Medical Genetics, Part A

Volumn 149, Issue 11, 2009, Pages 2403-2408

  Xiong, Hui ^a   Wang, Shuo ^a   Kobayashi, Kazuhiro ^b   Jiang, Yuwu ^a   Wang, Jingmin ^a   Chang, Xingzhi ^a   Yuan, Yun ^a   Liu, Jieyu ^a   Toda, Tatsushi ^b   Fukuyama, Yukio ^c   Wu, Xiru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Child Neurology Institute   (Japan)

Author keywords

3 kb retrotransposal insertion; Chinese; FCMD

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; CREATINE KINASE; FUKUTIN; MEROSIN;

ARTICLE; CASE REPORT; CHILD; CHINESE; CREATININE BLOOD LEVEL; ELECTROMYOGRAPHY; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GLYCOSYLATION; HISTOLOGY; HUMAN; MALE; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; POPULATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE; SIGNAL TRANSDUCTION; SKELETAL MUSCLE; SPEECH DEVELOPMENT; WHITE MATTER;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTAGENESIS, INSERTIONAL; PEDIGREE; RETROELEMENTS; STAINING AND LABELING;

EID: 70449346638     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33057     Document Type: Article

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