A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

Gillespie, Meredith K

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset. [electronic resource] - Journal of neuromuscular diseases 2019 - 333-339 p. digital

Publication Type: Case Reports; Journal Article

2214-3602

10.3233/JND-190404 doi


Charcot-Marie-Tooth Disease--genetics
Child
Female
Humans
Methionine-tRNA Ligase--genetics
Mutation
Phenotype
Protein Structure, Tertiary