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