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Article

A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.

Journal of neuromuscular diseases - 1 Jan 2024

Nishadham Vikas, Santhoshkumar Rashmi, Nashi Saraswati, Vengalil Seena, Bardhan Mainak, Polavarapu Kiran, Sanka Sai Bhargava, Anjanappa Ram Murthy, Kulanthaivelu Karthik, Saini Jitender, Chickabasaviah Yasha T, Nalini Atchayaram

Abstract excerpt

Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H is characterized by early onset and slowly progressing motor and sensory deficits in the distal extremities, along with foot deformities. We describe a patient with CMT4H who presented with rapidly progressing flaccid quadriparesis during the postpartum period, which improved...

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Identifiers

PMID: 38108359
DOI: 10.3233/JND-230042
PMCID: PMC10789318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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