An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X).
Soltanzadeh
P
P
Müller
J S
JS
Ghorbani
A
A
Abicht
A
A
Lochmüller
H
H
Soltanzadeh
A
A
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D007514:Islam; D008297:Male; D009157:Myasthenia Gravis / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D016366:Open Reading Frames; D010375:Pedigree; D021122:Protein Subunits / Q000235:genetics*; D011950:Receptors, Cholinergic / Q000172:deficiency / Q000235:genetics*
D021122:Protein Subunits; D011950:Receptors, Cholinergic