Article
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
American journal of human genetics - 1 Oct 1998
Donger C, Krejci E, Serradell A P, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulié J, Guicheney P
Abstract excerpt
Congenital myasthenic syndrome (CMS) with end-plate acetylcholinesterase (AChE) deficiency is a rare autosomal recessive disease, recently classified as CMS type Ic (CMS-Ic). It is characterized by onset in childhood, generalized weakness increased by exertion, refractoriness to anticholinesteras...
Topics
- Acetylcholinesterase
- Adult
- Amino Acid Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- Collagen
- Female
- Humans
- Lod Score
- Male
- Middle Aged
- Molecular Sequence Data
- Muscle Proteins
- Mutation