Małgorzata Beręsewicz Anna Boratyńska-Jasińska Łukasz Charzewski Maria Kawalec Dagmara Kabzińska Andrzej Kochański Krystiana A Krzyśko Barbara Zabłocka
10.1371/journal.pone.0169999
PLoS One
2017 Jan 11;12(1):e0169999.
CC BY
https://pubmed.ncbi.nlm.nih.gov/28076385/
Charcot-Marie-Tooth Disease / genetics GTP Phosphohydrolases / genetics Mitochondrial Proteins / genetics Polymorphism, Single Nucleotide
Charcot-Marie-Tooth Disease / genetics GTP Phosphohydrolases / genetics Mitochondrial Proteins / genetics Polymorphism, Single Nucleotide Case Reports Amino Acid Substitution / genetics Arginine / genetics Case-Control Studies Cells, Cultured Charcot-Marie-Tooth Disease / pathology Fibroblasts / metabolism Humans Male Mutation, Missense Tryptophan / genetics Young Adult Mitochondrial Proteins Tryptophan Arginine GTP Phosphohydrolases MFN2 protein, human Charcot-Marie-Tooth disease, Type 2A
PMC5226824
28076385
The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient
2017