TY  - GEN
AU  - Gillespie,Meredith K
AU  - McMillan,Hugh J
AU  - Kernohan,Kristin D
AU  - Pena,Izabella A
AU  - Meyer-Schuman,Rebecca
AU  - Antonellis,Anthony
AU  - Boycott,Kym M
TI  - A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset
SN  - 2214-3602
PY  - 2020///0217
KW  - Charcot-Marie-Tooth Disease
KW  - genetics
KW  - Child
KW  - Female
KW  - Humans
KW  - Methionine-tRNA Ligase
KW  - Mutation
KW  - Phenotype
KW  - Protein Structure, Tertiary
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.3233/JND-190404
ER  -