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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Maselli, R A, Ng, J J, Anderson, J A, Cagney, O, Arredondo, J, Williams, C, Wessel, H B, Abdel-Hamid, H, Wollmann, R L
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 2009
Gaiak:
Mutation Reports
Sarrera elektronikoa: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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