Clinical variability in calpainopathy: What makes the difference?

Author:

de Paula Flávia,Vainzof Mariz,Passos-Bueno Maria Rita,de Cássia M Pavanello Rita,Matioli Sergio Russo,V B Anderson Louise,Nigro Vincenzo,Zatz Mayana

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Zatz M, Vainzof M, Passos-Bueno MR . Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes Curr Opin Neurol 2000 13: 511–517 (Review)

2. Bushby KM . The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms Hum Mol Genet 1999 8: 1875–1882 (Review)

3. Hackman P, Richard I, Vihola A, Haravuori H, Marchand S, Labeit S, Sarparanta J, Taivainen A, Carpén O, Udd B . Tibial Muscular Dystrophy (TMD), 2q31 linked Myopathy: Sequencing and Functional Studies of the Titin (TTN) gene Journal of the Neurological Sciences 2002 199 Suppl 1: S35

4. Moreira ES, Wiltshire TJ, Faulkner G et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin Nat Genet 2000 24: 163–166

5. Halliday W, Greenberg CR, Wrogemann K . Genetic heterogeneity of limb girdle muscular dystrophy in Manitoba Hutterites Am J Hum Genet 1998 639 Suppl: A392 (Abstract 2280)

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