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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Bibliografiske detaljer
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
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2009
Fag:
Mutation Reports
Online adgang: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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