Katherine Schon Olivera Spasic-Boskovic Kim Brugger Tracey D Graves Stephen Abbs Soo-Mi Park Gautam Ambegaonkar Ruth Armstrong
10.1007/s10048-016-0504-2
Neurogenetics
2017 Jan;18(1):49-55.
cmt2a charcot-marie-tooth disease mfn2 mosaicism
CC BY
https://pubmed.ncbi.nlm.nih.gov/28063088/
Charcot-Marie-Tooth Disease / genetics Charcot-Marie-Tooth Disease / pathology GTP Phosphohydrolases / genetics Mitochondrial Proteins / genetics Mosaicism Mutation, Missense
Charcot-Marie-Tooth Disease / genetics Charcot-Marie-Tooth Disease / pathology GTP Phosphohydrolases / genetics Mitochondrial Proteins / genetics Mosaicism Mutation, Missense Case Reports Adult Child, Preschool Father-Child Relations Female Humans Male Nuclear Family Parents Pedigree Phenotype Severity of Illness Index Mitochondrial Proteins GTP Phosphohydrolases MFN2 protein, human
PMC5243894
28063088
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
2017