Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita-Reference-Cited by-同舟云学术

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

Published:2015-05-26 Issue:3 Volume:17 Page:285-296
ISSN:1535-1084
Container-title:NeuroMolecular Medicine
language:en
Short-container-title:Neuromol Med

Author:

Portaro Simona,Altamura Concetta,Licata Norma,Camerino Giulia M.,Imbrici Paola,Musumeci Olimpia,Rodolico Carmelo,Conte Camerino Diana,Toscano Antonio,Desaphy Jean-François

Funder

Italian Health Department

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12017-015-8356-8.pdf

Reference33 articles.

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3. Brugnoni, R., Kapetis, D., Imbrici, P., Pessia, M., Canioni, E., Colleoni, L., et al. (2013). A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. Journal of Human Genetics, 58(9), 581–587.

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