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Definition

A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia.

Acronym

CMS22

Synonyms

PREPL deficiency

Keywords

Congenital myasthenic syndrome

 
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