Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

RT @GeorgusCayo: Pathogenic point variants in the SORD (poorly covered by nextgeneration sequencing techniques) gene are reported to be res…

Pathogenic point variants in the SORD (poorly covered by nextgeneration sequencing techniques) gene are reported to be responsible for 10% of all cases of CMT2 . Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD h…