Further Reading

Grewal PK, Holzfeind PJ, Bittner RE, et al. (2001). Mutant glycosyltransferase and altered glycosylation of a dystro-

glycan in the myodystrophy mouse. Nat Genet 28:: 151-154.

Kaindl AM, Jakubiczka S, Lucke T, et al. (2005). Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat 26: 279-280.

Knupp C, Squire JM (2001). A new twist in the collagen story — the type VI segmented supercoil. EMBO J 20: 372-376.

Kobayashi K, Nakahori Y, Miyake M, et al. (2005). Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol Dis 19: 208-217.

Kuo HJ, Keene DR, Glanville RW (1995). The macromolec-ular structure of type-VI collagen. Formation and stability of filaments. Eur J Biochem 232: 364-372.

Lamande SR, Bateman JF, Hutchison W, et al. (1998). Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. Hum Mol Genet 7: 981-989.

Lamande SR, Shields KA, Kornberg AJ, Shield AJ, et al. (1999). Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. J Biol Chem 274: 21817-21822.

Longman C, Brockington M, Torelli S, et al. (2002). Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of a-dystroglycan. Hum Mol Genet 12: 2853-2861.

Mercuri E, Yuva Y, Brown SC, et al. (2002). Collagen VI involvement in Ullrich syndrome. A clinical, genetic, and immunohistochemical study. Neurology 58: 1354-1359.

Nakagome Y, Kanazawa I, Nakamura Y, et al. (1998). An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392.

Nonaka I, Nakagome Y, Kanazawa I, et al. (1998). An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392.

Pollitt C, Anderson LVB, Pogue R, et al. (2001). The pheno-type of calpainopathy: diagnosis based on a multidisciplin-ary approach. Neuromuscul Disord 11: 287-296.

Richard I, Broux O, Allamand V, et al. (1995). Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81: 27-40.

Saito Y, Mizuguchi M, Oka A, et al. (2000). Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain. Ann Neurol 47: 756-764.

Tanaka K, Yamada T, Kikuchi H, et al. (1998). Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture. Acta Neurol Scand 100: 199-201.

Handbook of Clinical Neurology, Vol. 86 (3rd series) Myopathies

F. L. Mastaglia, D. Hilton-Jones, Editors © 2007 Elsevier B. V. All rights reserved

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