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