Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

BACKGROUND: We describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin β2 subunit (LAMB2). METHODS AND RESULTS: Mutational analysis in the affected patient, who ha...

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Detalhes bibliográficos
Main Authors: Maselli, R A, Ng, J J, Anderson, J A, Cagney, O, Arredondo, J, Williams, C, Wessel, H B, Abdel-Hamid, H, Wollmann, R L
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
Assuntos:
Mutation Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2643050/
https://ncbi.nlm.nih.gov/pubmed/19251977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.063693
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