Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.

ABSTRACT:

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 beta2 subunit (LAMB2).

Methods and results

Mutational analysis in the affected patient, who has a history of a serious untoward reaction to treatment with acetylcholinesterase inhibition, revealed two frame-shifting heteroallelic mutations, a maternally inherited 1478delG and a paternally inherited 4804delC. An anconeus muscle biopsy demonstrated a profound distortion of the architecture and function of the neuromuscular junction, which was strikingly similar to that seen in mice lacking laminin beta2 subunit. The findings included: pronounced reduction of the axon termin

SUBMITTER: Maselli RA 

PROVIDER: S-EPMC2643050 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature