Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
Richard
P
P
Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B & IFR 14, Hôpital de la Salpêtriére, Paris, France.
Gaudon
K
K
Andreux
F
F
Yasaki
E
E
Prioleau
C
C
Bauché
S
S
Barois
A
A
Ioos
C
C
Mayer
M
M
Routon
M C
MC
Mokhtari
M
M
Leroy
J P
JP
Fournier
E
E
Hainque
B
B
Koenig
J
J
Fardeau
M
M
Eymard
B
B
Hantaï
D
D
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001216:Asparagine / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D018703:Founder Effect; D006801:Humans; D007223:Infant; D008239:Lysine / Q000235:genetics; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D010375:Pedigree; D011978:Receptors, Nicotinic / Q000235:genetics
D009124:Muscle Proteins; D011978:Receptors, Nicotinic; C051609:peripheral membrane protein 43K; D001216:Asparagine; D008239:Lysine