A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.

doi:10.1007/s10072-022-05893-4

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Article

A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2022

Pravinbabu Pooja, Holla Vikram V, Phulpagar Prashant, Kamble Nitish, Netravathi Manjunath, Yadav Ravi, Pal Pramod Kumar, Muthusamy Babylakshmi

Abstract excerpt

Charcot-Marie-Tooth disease, type 4D (CMT4D) is a progressive, autosomal recessive form of CMT, characterized by distal muscle weakness and atrophy, foot deformities, severe motor sensory neuropathy, and sensorineural hearing impairment. Mutations in NDRG1 gene cause neuropathy in humans, dogs, and rodents. Here, we describe clinical and genetic features of a 17-year-old male with wasting of hand muscle and foot...

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PMID: 35149926
DOI: 10.1007/s10072-022-05893-4

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