Efficient identification of novel mutations in patients with limb girdle muscular dystrophy-Reference-Cited by-同舟云学术

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

Published:2010-07-13 Issue:4 Volume:11 Page:449-455
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Boyden Steven E.,Salih Mustafa A.,Duncan Anna R.,White Alexander J.,Estrella Elicia A.,Burgess Stephanie L.,Seidahmed Mohammed Z.,Al-Jarallah Abdullah S.,Alkhalidi Hisham M. S.,Al-Maneea Waleed M.,Bennett Richard R.,Alshemmari Salem H.,Kunkel Louis M.,Kang Peter B.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10048-010-0250-9

Reference24 articles.

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2. Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B (2010) Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 86:213–221

3. Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP (2008) Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 29:258–266

4. Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C (2009) Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology 72:1432–1435

5. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567–1570

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