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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Publishing Group
2009
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| Θέματα: | |
| Διαθέσιμο 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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