Hereditary Motor Sensory Neuropathy: Case Report and Update Genetic Implications (P12-11.021)

To explore the clinical and genetic implications of a variant of unknown significance (VUS) in the neurofilament light chain (NEFL) gene, observed in three familial cases of Charcot-Marie-Tooth (CMT) disease.

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Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000212056
Primary Topic
Hereditary Neurological Disorders
Type
article
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0.00
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article

Hereditary Motor Sensory Neuropathy: Case Report and Update Genetic Implications (P12-11.021)

Martin M. Brown, Mohammad R Ghani, Rebecca Lightman
Neurology
Hereditary Neurological Disorders
article

Hereditary Motor Sensory Neuropathy: Case Report and Update Genetic Implications (P12-11.021)

Martin M. Brown, Mohammad R Ghani, Rebecca Lightman
article en

Abstract

To explore the clinical and genetic implications of a variant of unknown significance (VUS) in the neurofilament light chain (NEFL) gene, observed in three familial cases of Charcot-Marie-Tooth (CMT) disease.

NeurologyVol. 104(7_Supplement_1)
University of Louisville (US)
Openalex Percentile: Top 92%
Hereditary Neurological Disorders
DOISourceOpenAlex
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Hereditary Motor Sensory Neuropathy: Case Report and Update Genetic Implications (P12-11.021) — Martin M. Brown, Mohammad R Ghani, et al. · Neurology (2025) | TGRS Research Map | TGRS