title: [Population genetic study of hereditary motor and sensory neuropathy in the Kirov region].
abstract: All the cases of hereditary motor and sensory neuropathy (HMSN) in an eastern part of Kirov region (Russian north-east) were ascertained (N = 42 including 11 persons with pre/subclinical forms; m: f = 1). HMSN prevalence is 15.95 +/- 2.47.10(-5) being higher in rural than in urban populations. The distribution of HMSN families (total 16) in 9 districts of the region is uneven. HMSN is the most common of all hereditary muscular disorders in the region. Autosomal dominant inheritance was established in 12 families, AD gene frequency is 10.90 +/- 2.90.10(-5) gene penetrance being 90%. Sporadic cases were few (N = 4; 9.76%). No proven autosomal recessive or X-linked inheritance was found out.
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: R A
authors.initials: RA
authors.lastname: Mamedova
authors.forename: A N
authors.initials: AN
authors.lastname: Petrin
authors.forename: V V
authors.initials: VV
authors.lastname: Poleshchuk
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D005828:Genetics, Population; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000453:epidemiology / Q000235:genetics*; D015995:Prevalence; D012423:Rural Health; D012426:Russia / Q000453:epidemiology; D014504:Urban Health
vernacular_title: Populiatsionno-geneticheskoe issledovanie nasledstvennoĭ motorno-sensornoĭ nevropatii v kirovskoĭ oblasti.