Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
Ohno
K
K
Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA. ohnok@mayo.edu
Engel
A G
AG
D000595:Amino Acid Sequence / Q000235:genetics; D000818:Animals; D001216:Asparagine / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018703:Founder Effect; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D020161:Physical Chromosome Mapping; D051381:Rats
D009124:Muscle Proteins; C051609:peripheral membrane protein 43K; D001216:Asparagine; D008239:Lysine