Quelltext der Seite Diskussion:Kongenitales myasthenes Syndrom

==Einteilung/Genetik==
Hier gilt es die vielen Untergruppen noch zu beschreiben. Einen ersten Anhaltspunkt liefert OMIM (kein Gebrüll, sondern Copy/Paste-Faulheit)…..

{{OMIM|608931}} MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene map locus 17p12-p11, 17p13-p12, 11p11.2-p11.1, 9q31.3-q32

{{OMIM|254210}} MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA Gene map locus 10q11.2

{{OMIM|601462}} MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS Gene map locus 17p12-p11, 17p13-p12, 2q33-q34, 2q24-q32

{{OMIM|603034}}  ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD Gene map locus 3p25

{{OMIM|254300}} MYASTHENIA, LIMB-GIRDLE, FAMILIAL Gene map locus 1pter-p32, 4p16.2

{{OMIM|254190}} MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS

{{OMIM|610542}} MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; CMSTA1

{{OMIM|608930}} MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL Gene map locus 17p13-p12, 2q33-q34, 2q24-q32

{{OMIM|614750}} MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2

{{OMIM|614198}} MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE

Grüße --[[Benutzer:Marvin 101|Marvin 101]] ([[Benutzer Diskussion:Marvin 101|Diskussion]]) 09:53, 13. Feb. 2013 (CET)