The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

Human Mutation

Volumn 27, Issue 5, 2006, Pages 453-459

  Van Reeuwijk, Jeroen ^a   Maugenre, Svetlana ^b   Van Den Elzen, Christa ^a   Verrips, Aad ^c   Bertini, Enrico ^d   Muntoni, Francesco ^e   Merlini, Luciano ^f   Scheffer, Hans ^a   Brunner, Han G ^a   Guicheney, Pascale ^b   Van Bokhoven, Hans ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e IMPERIAL COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF FERRARA   (Italy)

Author keywords

Dystroglycan; Genotype phenotype; Muscle eye brain; POMT1; Walker Warburg syndrome

Indexed keywords

ALPHA DYSTROGLYCAN; MANNOSYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; BRAIN DEVELOPMENT; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ACTIVITY; ENZYME ACTIVITY; EYE DEVELOPMENT; FEMALE; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; GLYCOSYLATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE DEVELOPMENT; MUSCLE HYPERTROPHY; MUSCULAR DYSTROPHY; MYOPIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; POMT1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; WALKER WARBURG SYNDROME;

ADOLESCENT; BRAIN; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; EYE ABNORMALITIES; FEMALE; HUMANS; MALE; MANNOSYLTRANSFERASES; MENTAL RETARDATION; MICROCEPHALY; MICROSATELLITE REPEATS; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; SYNDROME;

EID: 33646356732     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20313     Document Type: Article

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