X-linked motor-sensory neuropathy type II with deafness and mental retardation

A new disorder

F. S. Cowchock, S. W. Duckett, Leopold Streletz, L. J. Graziani, L. G. Jackson

Research output: Contribution to journalArticle

66 Citations (Scopus)

Abstract

We report on a family with an apparently X-linked neuromuscular disease. Electrophysiologic tests and electron microscopic studies are consistent with the diagnosis of hereditary motor sensory neuropathy type II (HMSN-II), one form of Charcot-Marie-Tooth disease. The manner of inheritance, the observation that males are severely affected from infancy, and the frequent association of deafness and/or mental retardation with the neuromuscular disorder are not usual for HMSN-II and suggest that this family may have a previously undescribed genetic disorder. The peripheral neuropathy did not appear to be linked to the Xg blood group. Minor abnormalities of sensory nerve conduction, electromyography, and hearing were separately identified in female relatives in this family, but were not consistent enough to be useful in the identification of carriers for this gene.

Original languageEnglish
Pages (from-to)307-315
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume20
Issue number2
DOIs
Publication statusPublished - 1985
Externally publishedYes

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Charcot-Marie-Tooth Disease
Deafness
Intellectual Disability
Neuromuscular Diseases
Inborn Genetic Diseases
Neural Conduction
Electromyography
Peripheral Nervous System Diseases
Blood Group Antigens
Hearing
Electrons
Genes

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

X-linked motor-sensory neuropathy type II with deafness and mental retardation : A new disorder. / Cowchock, F. S.; Duckett, S. W.; Streletz, Leopold; Graziani, L. J.; Jackson, L. G.

In: American Journal of Medical Genetics, Vol. 20, No. 2, 1985, p. 307-315.

Research output: Contribution to journalArticle

Cowchock, F. S. ; Duckett, S. W. ; Streletz, Leopold ; Graziani, L. J. ; Jackson, L. G. / X-linked motor-sensory neuropathy type II with deafness and mental retardation : A new disorder. In: American Journal of Medical Genetics. 1985 ; Vol. 20, No. 2. pp. 307-315.
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