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Article

Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.

Journal of the peripheral nervous system : JPNS - 1 Jun 2018

Sagi-Dain Lena, Shemer Lilach, Zelnik Nathanel, Zoabi Yusri, Orit Sadeh, Adir Vardit, Schif Aharon, Peleg Amir

Abstract excerpt

Charcot-Marie-Tooth (CMT) is a heterogeneous group of progressive disorders, characterized by chronic motor and sensory polyneuropathy. This hereditary disorder is related to numerous genes and varying inheritance patterns. Thus, many patients do not reach a final genetic diagnosis. We describe a 13-year-old girl presenting with progressive bilateral leg weakness and gait instability. Extensive laboratory studies...

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PMID: 29582526
DOI: 10.1111/jns.12264

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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