Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update-Reference-Cited by-同舟云学术

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

Published:2017-11 Issue:S8 Volume:18 Page:
ISSN:1471-2164
Container-title:BMC Genomics
language:en
Short-container-title:BMC Genomics

Author:

Santalla Alfredo,Nogales-Gadea Gisela,Encinar Alberto Blázquez,Vieitez Irene,González-Quintana Adrian,Serrano-Lorenzo Pablo,Consuegra Inés García,Asensio Sara,Ballester-Lopez Alfonsina,Pintos-Morell Guillem,Coll-Cantí Jaume,Pareja-Galeano Helios,Díez-Bermejo Jorge,Pérez Margarita,Andreu Antoni L.,Pinós Tomàs,Arenas Joaquín,Martín Miguel A.,Lucia Alejandro

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Link

http://link.springer.com/content/pdf/10.1186/s12864-017-4188-2.pdf

Reference30 articles.

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2. Vissing J, Haller RG. A diagnostic cycle test for McArdle's disease. Ann Neurol. 2003;54(4):539–42.

3. Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, et al. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat. 2006;27(7):718.

4. Martin MA, Rubio JC, Buchbinder J, Fernandez-Hojas R, del Hoyo P, Teijeira S, Gamez J, Navarro C, Fernandez JM, Cabello A, et al. Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. Ann Neurol. 2001;50(5):574–81.

5. Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, et al. Phenotype modulators in myophosphorylase deficiency. Ann Neurol. 2003;53(4):497–502.

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