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Genetic epidemiology of hereditary motor sensory neuropathies (type I)

✍ Scribed by Mostacciuolo, M. L. ;Micaglio, G. ;Fardin, P. ;Danieli, G. A.

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
330 KB
Volume
39
Category
Article
ISSN
0148-7299

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✦ Synopsis

Patients affected with hereditary motor sen. sory neuropathy (HMNS) type I were traced through hospital records. Each case was reexamined, a family history was drawn, and EMG examination was performed in those members of the family who could have inherited the trait. In the prevalence year 1987, in a population of 1,067,130 inhabitants of 2 contiguous provinces of northeast Italy, 100 living cases were recorded in 30 families, giving a minimal prevalence rate estimate of 9.371100,OOO. HMSN I is inherited as an autoso-ma1 dominant trait, when clinical evaluation includes EMG. No difference may be established clinically between the 2 subtypes (Ia, linked to chromosome 1 and Ib, linked to chromosome 17). Sporadic cases are very rare and the mutation rate, including both the subtypes, is estimated between 3 and 6 x

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