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Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype

✍ Scribed by Dr. Jessica E. Hoogendijk; Dr. Marianne de Visser; Dr. Pieter A. Bolhuis; Dr. Augustinus A. M. Hart; Dr. Bram W. Ongerboer de Visser

Book ID: 102955348
Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 539 KB
Volume: 17
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.880170112

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✦ Synopsis

Forty-four affected individuals, aged 8-68 years (mean 34 years), from six families with hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) were investigated to determine the clinical and electroneurographical characteristics of the HMSN I subtype that is defined by the presence of a DNA duplication on chromosome 17p. Motor nerve conduction velocity (MNCV) and, to a lesser extent, compound muscle action potential amplitude, were inversely related to clinical severity. Neither clinical severity nor MNCV were significantly related to age. These results suggest that the primary pathological process is not, or only slightly active after childhood. o 1994 John Wiley & Sons, Inc.

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