Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan

American Journal of Human Genetics

Volumn 69, Issue 6, 2001, Pages 1198-1209

  Brockington, M ^a   Blake, D J ^b   Prandini, P ^a   Brown, S C ^a   Torelli, S ^a,c   Benson, M A ^b   Ponting, C P ^b   Estournet, B ^d   Romero, N B ^e   Mercuri, E ^a   Voit, T ^f   Sewry, C A ^a,g   Guicheney, P ^e   Muntoni, F ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d RAYMOND POINCARÉ HOSPITAL   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY OF DUISBURG ESSEN   (Germany)

^g ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; CREATINE KINASE; DYSTROGLYCAN; FUKUTIN RELATED PROTEIN; GENE PRODUCT; LAMININ; LAMININ ALPHA2; MEROSIN; PHOSPHORYL LIGAND TRANSFERASE; TRANSFERASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN FUNCTION; CHROMOSOME 19Q; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; MAJOR CLINICAL STUDY; MALE; MOLECULAR WEIGHT; MUSCLE HYPERTROPHY; MUSCULAR DYSTROPHY; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SCHOOL CHILD; SEQUENCE ANALYSIS; SYNDROME; WESTERN BLOTTING;

EID: 0035212037     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324412     Document Type: Article

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