CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.

ABSTRACT:

Rationale

Congenital myasthenic syndrome (CMSs) are a group of rare genetic disorders of the neurological junction, which can result in structural or functional weakness. Here, we characterized a case of CMS in order to clarify the diagnosis and expand the understanding of it. The molecular diagnosis had implications for choice of treatment and genetic counseling.

Patient concerns

A 3-year-old male patient with CMS had ptosis and limb weakness for 2 months after birth. Clinical course and electrophysiological, imaging, and genetic findings were assessed. Protein structure/function was predicted. A novel mutation of c.295C>T (exon 4) and another known mutation of c.442T>A (exon 5) were found in CHRNE. Both mutations localized in conserved sequences. The c.442T>A (p.C148S) mis

SUBMITTER: Yang K 

PROVIDER: S-EPMC5944527 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature