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Article

Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.

Journal of neurology, neurosurgery, and psychiatry - 16 Oct 2024

Parmar Jevin M, Laing Nigel G, Kennerson Marina L, Ravenscroft Gianina

Abstract excerpt

Inherited peripheral neuropathies (IPNs) encompass a clinically and genetically heterogeneous group of disorders causing length-dependent degeneration of peripheral autonomic, motor and/or sensory nerves. Despite gold-standard diagnostic testing for pathogenic variants in over 100 known associated genes, many patients with IPN remain genetically unsolved. Providing patients with a diagnosis is critical for...

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Genetic Predisposition to Disease
Peripheral Nervous System Diseases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38744462
DOI: 10.1136/jnnp-2024-333436
PMCID: PMC11503175

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