Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

Human Molecular Genetics

Volumn 12, Issue 21, 2003, Pages 2853-2861

  Longman, Cheryl ^a   Brockington, Martin ^a   Torelli, Silvia ^a   Jimenez Mallebrera, Cecilia ^a   Kennedy, Colin ^b   Khalil, Nofal ^c   Feng, Lucy ^a   Saran, Ravindra K ^a,d   Voit, Thomas ^e   Merlini, Luciano ^f   Sewry, Caroline A ^a,g   Brown, Susan C ^a   Muntoni, Francesco ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

^d G B PANT HOSPITAL   (India)

^e UNIVERSITY OF DUISBURG ESSEN   (Germany)

^f RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

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

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; DYSTROGLYCAN; EPITOPE; GLUTAMINE; GLYCOSYLTRANSFERASE; GUANINE; LAMININ; LYSINE; MUSCLE PROTEIN; MUTANT PROTEIN; POLYCLONAL ANTIBODY;

ADOLESCENT; ANTIBODY LABELING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CASE REPORT; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE SEVERITY; EYE MALFORMATION; FAMILY; FEMALE; GENE INSERTION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; LINKAGE ANALYSIS; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR WEIGHT; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN GLYCOSYLATION; WALKER WARBURG SYNDROME; WESTERN BLOTTING;

ADOLESCENT; CHROMOSOME MAPPING; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; FEMALE; GLYCOSYLATION; HUMANS; LAMININ; MAGNETIC RESONANCE IMAGING; MEMBRANE GLYCOPROTEINS; MENTAL RETARDATION; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION;

INSERTION SEQUENCES;

EID: 10744226857     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg307     Document Type: Article

References (35)

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