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

More general terms

• familial myasthenia gravis

Database

• OMIM: https://mirror.omim.org/entry/254210
• OMIM: https://mirror.omim.org/entry/254200