Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study

Neurology

Volumn 58, Issue 9, 2002, Pages 1354-1359

  Mercuri, Eugenio ^a   Yuva, Y ^a   Brown, S C ^a   Brockington, M ^a   Kinali, M ^a   Jungbluth, H ^a   Feng, L ^a   Sewry, C A ^a   Muntoni, F ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FAILURE TO THRIVE; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENETICS; HAPLOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MULTIGENE FAMILY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; TURNER SYNDROME;

EID: 0037076508     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.9.1354     Document Type: Article

References (16)

1. Kongenitale, atonish-sklerotische muskeldystrophie
2. Ullrich's congenital atonic sclerotic muscular dystrophy
3. A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)
4. A case of Ullrich disease (kongenitale, atonish-sklerotische muskeldystrophie)
5. A new case of Ullrich's disease
6. Une dystrophie musculaire oubliee: La maladie d'Ullrich
7. Dystrophie musculaire congenitale avec deficience en merosine
8. Congenital muscular dystrophies: 1997 Update
9. Congenital muscular dystrophies
10. Collagen VI deficiency in Ullrich's disease
11. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
12. Frameshift mutations in the collagen VI gene causes Ullrich's disease
13. Immunocytochemical analysis of human muscular dystrophy
14. Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3
15. CA repeat polymorphism of the COL6A3 gene on chromosome 2q37