ArticleFrontiers in neurology2026
Genetic basis of Charcot-Marie-Tooth disease in Pakistani consanguineous families.
Article in Frontiers in neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Charcot-Marie-Tooth (CMT) is a group of inherited neuromuscular disorders with diverse clinical features such as muscle weakness and atrophy of the distal regions, foot deformities, sensory loss and decreased or absent reflexes. With the diverse inheritance patterns including dominant, recessive, and X-linked, it exhibits significant genetic heterogeneity often overlapping with other neurological disorders. Whole exome sequencing (WES) has emerged as favorable diagnostic tool for such challenging disease entities. We recruited five Pakistani families that consisted of 14 affected individuals exhibiting representative symptoms of CMT such as severe muscle weakness of the lower limbs, muscles atrophy, claw hands and feet deformities. WES data analysis revealed two novel and two already reported homozygous missense variants in
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