Milder forms of muscular dystrophy associated with POMGNT2 mutations

Neurology: Genetics

Volumn 1, Issue 4, 2015, Pages

  Endo, Yukari ^a,b   Dong, Mingrui ^a,c   Noguchi, Satoru ^a,b   Ogawa, Megumu ^a   Hayashi, Yukiko K ^a,d   Kuru, Satoshi ^e,f   Sugiyama, Kenji ^a   Nagai, Shigehiro ^g   Ozasa, Shiro ^h   Nonaka, Ikuya ^a   Nishino, Ichizo ^a,b  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^d TOKYO MEDICAL UNIVERSITY   (Japan)

^e SUZUKA NATIONAL HOSPITAL   (Japan)

^f Food Technology Division   (Japan)

^g SHIKOKU MEDICAL CENTER FOR CHILDREN AND ADULTS   (Japan)

^h KUMAMOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; COMPLEMENTARY DNA; DYSTROPHIN; GLYCOSYLTRANSFERASE; MEROSIN; SARCOGLYCAN;

ADOLESCENT; ADULT; ARTICLE; BRAIN MALFORMATION; CASE REPORT; COHORT ANALYSIS; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DYSTROGLYCANOPATHY; ENZYME ACTIVITY; EYE MALFORMATION; FEMALE; GENE INACTIVATION; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HAPLOIDY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MUSCULAR DYSTROPHY; MUTATOR GENE; PATHOGENICITY; PHENOTYPE; POMGNT2 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WESTERN BLOTTING; WHOLE EXOME SEQUENCING;

EID: 85029133682     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000033     Document Type: Article

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