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Article

Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.

The International journal of neuroscience - 1 Aug 2022

Chaudhuri Jasodhara, Dutta Atanu Kumar, Biswas Tamoghna, Biswas Atanu, Ray Biman Kanti, Ganguly Gautam

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is mainly a disease of peripheral nervous system and patients typically present with features of demyelinating neuropathy or axonal neuropathy or both. Rarely patients present with features of central nervous system involvement. Parkinsonism, aphemia and familial epilepsy syndrome have previously come up as case reports in association with CMT type 4 J.We hereby describe a family...

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PMID: 33080143
DOI: 10.1080/00207454.2020.1840373

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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