Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.

doi:10.1002/ana.410440214

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Article

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.

Annals of neurology - 1 Aug 1998

Ohno K, Anlar B, Ozdirim E, Brengman J M, DeBleecker J L, Engel A G

Abstract excerpt

We report and functionally characterize five new mutations of the acetylcholine receptor (AChR) in 11 Turkish patients with recessive congenital myasthenic syndromes (CMS) belonging to six families. All mutations are in the epsilon-subunit gene. Parental consanguinity is present in three families...

Topics

Base Sequence
DNA
Female
Frameshift Mutation
Humans
Male
Molecular Sequence Data
Mutation
Myasthenia Gravis
Pedigree
Polymorphism, Restriction Fragment Length
Receptors, Cholinergic
Syndrome
Turkey

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