Gillespie, Meredith K <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2214-3602 
<br/><br/><label>Standard No.: </label>10.3233/JND-190404  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Charcot-Marie-Tooth Disease--genetics<br/>Child<br/>Female<br/>Humans<br/>Methionine-tRNA Ligase--genetics<br/>Mutation<br/>Phenotype<br/>Protein Structure, Tertiary