familial infantile myasthenia gravis 2 (FIMG2, CMS-EA)

Genetics: - autosomal recessive - associated with defects in ChAT gene Clinical manifestations: - myasthenic symptoms since birth or early infancy - abrupt episodic crises with increased weakness, bulbar paralysis, & apnea precipitated by exertion, fever, or excitement Laboratory: - negative tests for anti-AChR antibodies

References

OMIM :accession 254210, 254200