Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness

Neurology

Volumn 59, Issue 6, 2002, Pages 920-923

  Ishikawa, H ^a,b   Sugie, K ^a,c   Murayama, K ^d   Ito, M ^e   Minami, N ^a   Nishino, I ^a   Nonaka, I ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NIHON UNIVERSITY   (Japan)

^c NARA MEDICAL UNIVERSITY   (Japan)

^d National Rehabilitation Center for the Disabled   (Japan)

^e TOKYO METROPOLITAN BOKUTOH HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; COLLAGEN DEFECT; ELECTRON MICROSCOPY; GENE MUTATION; GENE SEQUENCE; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MUSCULAR DYSTROPHY; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TURNER SYNDROME;

EID: 0037167523     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.59.6.920     Document Type: Article

References (7)

1. Ullrich O. kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems. Z Ges Neurol Psychiat 1930;126:171-201.
2. Nonaka I, Une Y, Ishihara T, Miyoshino S, Nakashima T, Sugita H. A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuropediatrics 1981;12:197-208.
3. Vanegas OC, Bertini E, Zhang RZ, et al. Ulrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001;98:7516-7521.
4. Higuchi I, Shiraishi T, Hashiguchi T, et al. Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann Neurol 2001;50:261-265.
5. Pepe G, Bertini E, Giusti B, et al. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy: a diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord 1999;9:264-271.
6. Benjamin Lewin. Genes VII. Oxford: Oxford University Press, 2000.
7. Kuo HJ, Maslen CL, Keene DR, Glanville RW. Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. J Biol Chem 1997;272:26522-26529.