POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

European Journal of Medical Genetics

Volumn 52, Issue 4, 2009, Pages 201-206

  Yanagisawa, Akiko ^a,b,c   Bouchet, Céline ^d,e   Quijano Roy, Susana ^a,b,f   Vuillaumier Barrot, Sandrine ^d   Clarke, Nigel ^a,b   Odent, Sylvie ^g   Rodriguez, Diana ^b,h   Romero, Norma B ^a,b   Osawa, Makiko ^c   Endo, Tamao ⁱ   Lia, Taratuto Ana ^j   Seta, Nathalie ^d,e   Guicheney, Pascale ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d BICHAT HOSPITAL   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f RAYMOND POINCARÉ HOSPITAL   (France)

^g RENNES UNIVERSITY HOSPITAL   (France)

^h ARMAND TROUSSEAU HOSPITAL   (France)

ⁱ TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^j FLENI   (Argentina)

more..

Author keywords

Dystroglycanopathy; Congenital muscular dystrophy; Genomic deletion; O glycosylation; POMT2

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA;

ADOLESCENT; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; EXON; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; JOINT CONTRACTURE; LYMPHOBLASTOID CELL; LYMPHOCYTE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOPIA; PHENOTYPE; POLYMERASE CHAIN REACTION; POMT2 GENE; PRESCHOOL CHILD; QUANTITATIVE ANALYSIS; RNA SPLICING; STRABISMUS; WALKER WARBURG SYNDROME;

ADOLESCENT; ALLELES; BASE SEQUENCE; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DYSTROGLYCANS; FEMALE; HUMANS; MALE; MANNOSYLTRANSFERASES; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 67650886258     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.12.004     Document Type: Article

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