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X-linked motor-sensory neuropathy type-II with deafness and mental retardation: A new disorder

✍ Scribed by Cowchock, F. Susan ;Duckett, Serge W. ;Streletz, Leopold J. ;Graziani, Leonard J. ;Jackson, Laird G. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 562 KB
Volume: 20
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320200214

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✦ Synopsis

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 11 , 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 andlor mental retardation with the neuromuscular disorder are not usual for HMSN-I1 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, electrornyography, 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.

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