Skin changes in Ullrich congenital muscular dystrophy

Neuromuscular Disorders

Volumn 18, Issue 12, 2008, Pages 982-

  Nadeau, Amelie ^a   Muntoni, Francesco ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Collagen type VI; Skin; Ullrich congenital muscular dystrophy

Indexed keywords

COLLAGEN TYPE 6;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; HUMAN; HUMAN TISSUE; JOINT CONTRACTURE; JOINT LAXITY; KELOID; KERATOSIS PILARIS; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY FAILURE; SCOLIOSIS; SKIN MANIFESTATION; STRIA; ULLRICH CONGENTIAL MUSCULAR DYSTROPHY; WEAKNESS;

ADOLESCENT; COLLAGEN TYPE VI; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; SKIN;

EID: 56649085092     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.07.011     Document Type: Article

References (2)

1. Jimenez-Mallebrera C., Maioli M.A., Kim J., et al. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord 16 (2006) 571-582
2. Pepe G., Bertini E., Bonaldo P., et al. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord 12 (2002) 984-993