Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity

Ann N Y Acad Sci. 1998 May 13:841:157-66. doi: 10.1111/j.1749-6632.1998.tb10922.x.

Authors

L T Middleton¹, K Christodoulou, F Deymeer, P Serdaroglu, C Ozdemir, A K al-Qudah, A al-Shehab, I Mavromatis, I Mylonas, A Evoli, M Tsingis, E Zamba, K Kyriallis

Affiliation

¹ Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

PMID: 9668234
DOI: 10.1111/j.1749-6632.1998.tb10922.x

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 17*
Electrodiagnosis
Female
Genes, Dominant
Genes, Recessive
Genetic Linkage
Genetic Variation
Humans
Lod Score
Male
Microsatellite Repeats
Middle Aged
Myasthenia Gravis / congenital
Myasthenia Gravis / genetics*
Myasthenia Gravis / physiopathology*
Pedigree
Receptors, Cholinergic / deficiency
Receptors, Cholinergic / genetics
Syndrome

Substances

Receptors, Cholinergic