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Updated: Sep 9, 2025

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Elastin Microfibril Interface-Located Protein 1 (EMILIN1) Mutation Mimicking Axonal Hereditary Motor Sensory

Somarajan Anandan1, Sajeesh Rajendran2, Ameena Sulaiman1

  • 1Neurology, St. Joseph's Mission Hospital, Anchal, IND.

Cureus
|September 5, 2025
PubMed
Summary

This study identifies a novel genetic cause for hereditary motor sensory neuropathy. A mutation in the elastin microfibril interface-located protein 1 (EMILIN1) gene is linked to axonal neuropathy, expanding our understanding of genetic neurological disorders.

Keywords:
axonal hmsncharcot marie tooth disease type 2cmtemilin 1hereditary motor sensory neuropathy type 2hmsn

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