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Article

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

Journal of medical genetics - 1 Jun 1997

Hanash A, Leguern E, Birouk N, Clermont O, Pouget J, Bouche P, Munnich A, Brice A, Melki J

Abstract excerpt

The spinal form of Charcot-Marie-Tooth disease (spinal CMT) is a rare genetic disorder of the peripheral nervous system, the genetic basis of which remains unknown. To test the hypothesis that a defect of survival motor neuron (SMN), the determining gene for spinal muscular atrophy (SMA), would result in spinal CMT, 18 unrelated spinal CMT patients were studied. Nine of them were sporadic cases and the other nine...

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Identifiers

PMID: 9192274
DOI: 10.1136/jmg.34.6.507
PMCID: PMC1050977

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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