Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases

Zaman Q, Khan MA, Sahar K, Rehman G, Khan H, Rehman M, Najumuddin, Ahmad I,
Tariq M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Faisal MS, Wasif N,
Jelani M.

Genes (Basel). 2023 Jan 27;14(2):328.

doi: 10.3390/genes14020328.