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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2009
Materias:
Mutation Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643050/
https://www.ncbi.nlm.nih.gov/pubmed/19251977
http://dx.doi.org/10.1136/jmg.2008.063693

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643050/
https://www.ncbi.nlm.nih.gov/pubmed/19251977
http://dx.doi.org/10.1136/jmg.2008.063693

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