The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
Müller
J S
JS
Abicht
A
A
Burke
G
G
Cossins
J
J
Richard
P
P
Baumeister
S K
SK
Stucka
R
R
Eymard
B
B
Hantaï
D
D
Beeson
D
D
Lochmüller
H
H
D001216:Asparagine / Q000235:genetics*; D005060:Europe; D019143:Evolution, Molecular; D018703:Founder Effect; D006801:Humans; D007194:India; D008239:Lysine / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*
D009124:Muscle Proteins; C051609:peripheral membrane protein 43K; D001216:Asparagine; D008239:Lysine