[Clinical and epidemiological characteristics of hereditary motor-sensory neuropathy 1X caused by the mutation c. 259C> G (p. P87A) in the GJB1 gene of patients from the Republic of Bashkortostan].

doi:10.17116/jnevro20171173180-84

Article

[Clinical and epidemiological characteristics of hereditary motor-sensory neuropathy 1X caused by the mutation c. 259C> G (p. P87A) in the GJB1 gene of patients from the Republic of Bashkortostan].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2000

Saifullina E V, Magzhanov R V, Khidiyatova I M, Khusnutdinova E K

Abstract excerpt

BACKGROUND: Hereditary motor-sensory neuropathy 1X (НМСН 1X) is the second frequent form of hereditary motor-sensory neuropathies caused by mutations in the GJB1 gene (gap junction B1 type). The authors have established earlier that the с.259C>G (р.P87A) mutation is the most frequent cause of НМСН 1Х (92%) in patients from the Republic of Bashkortostan. AIM: To study in details the territorial ethnic distribution...

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[Clinical and epidemiological characteristics of hereditary motor-sensory neuropathy 1X caused by the mutation c. 259C> G (p. P87A) in the GJB1 gene of patients from the Republic of Bashkortostan].

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