Meredith K Gillespie Hugh J McMillan Kristin D Kernohan Izabella A Pena Rebecca Meyer-Schuman Care4Rare Canada Consortium Anthony Antonellis Kym M Boycott
10.3233/JND-190404
J Neuromuscul Dis
2019;6(3):333-339.
cmt2u charcot-marie-tooth disease type 2u mars early-onset neuropathy exome sequencing
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/31356216/
Charcot-Marie-Tooth Disease / genetics Methionine-tRNA Ligase / genetics
Charcot-Marie-Tooth Disease / genetics Methionine-tRNA Ligase / genetics Case Reports Child Female Humans Mutation Phenotype Protein Structure, Tertiary MARS1 protein, human Methionine-tRNA Ligase
PMC6889022
31356216
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset
2019