Predominant fiber atrophy and fiber type disproportion in early Ullrich disease

Muscle and Nerve

Volumn 38, Issue 3, 2008, Pages 1184-1191

  Schessl, Joachim ^a   Goemans, Nathalie M ^b   Magold, Alexandra I ^a   Zou, Yaqun ^a   Hu, Ying ^a   Kirschner, Janbernd ^a   Sciot, Raf ^b   Bönnemann, Carsten G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Collagen VI deficiency; Fiber type disproportion (FTD); Muscle fiber; Muscle fiber atrophy; Ullrich congenital muscular dystrophy (UCMD)

Indexed keywords

COLLAGEN TYPE 6; MUTANT PROTEIN;

ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATASES; BIOPSY; CHILD, PRESCHOOL; COLLAGEN TYPE VI; FEMALE; HUMANS; INDOLES; INFANT; LAMININ; MALE; MUSCLE FIBERS; MUSCULAR ATROPHY; MYOSIN HEAVY CHAINS; MYOTONIC DYSTROPHY;

EID: 51349161707     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21088     Document Type: Article

References (27)

1. Baker NL, Morgelin M, Peat R, Goemans N, North KN, Bateman JF, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 2005;14:279-293.
2. Bertini E, Pepe G. Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol 2002;6:193-198.
3. Brooke M. Congenital fiber type disproportion. In: Kakulas BA, editor. Clinical studies in myology. International Congress Series. Amsterdam: Excerpta Medica; 1973. p 147-159.
4. Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad USA 2001;98:7516-7521.
5. Clarke NF, North KN. Congenital fiber type disproportion - 30 years on. J Neuropathol Exp Neurol 2003;62:977-989.
6. Clarke NF, Smith RL, Bahlo M, North KN. A novel X-linked form of congenital fiber-type disproportion. Ann Neurol 2005;58:767-772.
7. Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol 2006;59:546-552.
8. Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, et al. The pathogenesis of ACTA1-related congenital fiber type disproportion. Ann Neurol 2007.
9. Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol 2008;63:329-337.
10. Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, et al. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 2002;70:1446-1458.
11. Dubowitz V. Congenital fiber type disproportion - a pathology in search of a disease. In: Dubowitz V, editor. Muscle disorders in childhood, 2nd ed. London: W.B. Saunders; 1995. p 166-167.
12. Higuchi I, Horikiri T, Niiyama T, Suehara M, Shiraishi T, Hu J, et al. Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency. Neuromuscul Disord 2003;13:310-316.
13. Higuchi I, Shiraishi T, Hashiguchi T, Suehara M, Niiyama T, Nakagawa M, et al. Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann Neurol 2001;50:261-265.
14. Howell SJ, Doane KJ. Type VI collagen increases cell survival and prevents anti-beta 1 integrin-mediated apoptosis. Exp Cell Res 1998;241:230-241.
15. Irwin WA, Bergamin N, Sabatelli P, Reggiani C, Megighian A, Merlini L, et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet 2003;35:367-371.
16. Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Noguchi S, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620-623.
17. Kandarian SC, Jackman RW. Intracellular signaling during skeletal muscle atrophy. Muscle Nerve 2006;33:155-165.
18. Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, et al. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol 2004;56:689-694.
19. Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet 2005;42:673-685.
20. Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet 2005;42:108-120.
21. Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, et al. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat 2008.
22. Monnier N, Labarre-Vila A, Commare M, Mezin P, Drouhin S, Marty I, et al. Congenital fibre type disproportion associated with de novo mutations in TPM3 and ACTA1 genes. Neuromuscul Disord 2007;17:835.
23. Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 2003;73:355-369.
24. Pfaff M, Aumailley M, Specks U, Knolle J, Zerwes HG, Timpl R. Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI. Exp Cell Res 1993;206:167-176.
25. Sewry CA. The role of immunocytochemistry in congenital myopathies. Neuromuscul Disord 1998;8:394-400.
26. Sobrido MJ, Fernandez JM, Fontoira E, Perez-Sousa C, Cabello A, Castro M, et al. Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family. Brain 2005;128:1716-1727.
27. Tillet E, Gential B, Garrone R, Stallcup WB. NG2 proteoglycan mediates beta1 integrin-independent cell adhesion and spreading on collagen VI. J Cell Biochem 2002;86:726-736.