Congenital muscular dystrophy with short stature, proximal contractures and distal laxity

Neuropediatrics

Volumn 35, Issue 4, 2004, Pages 224-229

  Mercuri, Eugenio ^a,b,h   Lampe, A ^c   Straub, V ^d   Yuva, Y ^a   Longman, C ^a   Wright, M ^c   Brown, S ^a   Sewry, C ^a   Bonnemann, C ^e   Kinali, M ^a   Brockington, M ^a   Hausser, I ^f   Jones, D Hilton ^g   Voit, T ^d   Bushby, K ^c   Muntoni, F ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b CATHOLIC UNIVERSITY   (Italy)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g RADCLIFFE INFIRMARY   (United Kingdom)

^h HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Congenital muscular dystrophy; Distal laxity; Mental retardation; Short stature

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 21Q; CLINICAL ARTICLE; COL6 GENE; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; FAMILIAL DISEASE; FEMALE; FLEXION CONTRACTURE; GENE; GENE EXPRESSION; GENE LOCUS; GENETIC LINKAGE; HIP CONTRACTURE; HUMAN; HUMAN TISSUE; JOINT LAXITY; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE RIGIDITY; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY FAILURE; SHORT STATURE; SKIN BIOPSY;

ADOLESCENT; ADULT; BODY HEIGHT; CHILD; CONTRACTURE; HUMANS; JOINT INSTABILITY; MENTAL RETARDATION; MUSCULAR DYSTROPHIES; PEDIGREE; RESPIRATORY INSUFFICIENCY; SPINAL DISEASES;

EID: 4544271183     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-821084     Document Type: Article

References (17)

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