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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Dettagli Bibliografici
Autori principali: Maselli, R A, Ng, J J, Anderson, J A, Cagney, O, Arredondo, J, Williams, C, Wessel, H B, Abdel-Hamid, H, Wollmann, R L
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2009
Soggetti:
Mutation Reports
Accesso online: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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