Phenotypic variation of a new P0 mutation in genetically identical twins.
We have identified a new point mutation in the myelin protein zero (P0) gene in two genetically identical twins with a demyelinating neuropathy. The G to A transition at nucleotide position 382 caused an aspartic acid to asparagine substitution in exon 3. Moreover, we found clear clinical differences which were most evident at an early age. These observations suggest that the expression of this P0 mutation may be susceptible to external, non-genetic influences that may act early in the course of the disease to alter the phenotype.
Marques
W
W
Department of Clinical Neurology, Institute of Neurology, London, UK.
Hanna
M G
MG
Marques
S R
SR
Sweeney
M G
MG
Thomas
P K
PK
Wood
N W
NW
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D018993:Myelin P0 Protein / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics*
D018993:Myelin P0 Protein