Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Kamholz
John
J
Shy
Michael E
ME
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000737:chemistry / Q000235:genetics*
D003062:Codon; D018993:Myelin P0 Protein