Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.
Middleton
L T
LT
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Christodoulou
K
K
Deymeer
F
F
Serdaroglu
P
P
Ozdemir
C
C
al-Qudah
A K
AK
al-Shehab
A
A
Mavromatis
I
I
Mylonas
I
I
Evoli
A
A
Tsingis
M
M
Zamba
E
E
Kyriallis
K
K
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004568:Electrodiagnosis; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009157:Myasthenia Gravis / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D011950:Receptors, Cholinergic / Q000172:deficiency / Q000235:genetics; D013577:Syndrome
D011950:Receptors, Cholinergic