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Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients

التفاصيل البيبلوغرافية
العنوان: Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
المؤلفون: E. L. Dadali, S. S. Nikitin, S. A. Kurbatov, A. F. Murtazina, I. V. Sharkova, O. A. Shchagina, F. A. Konovalov
المصدر: Нервно-мышечные болезни, Vol 7, Iss 3, Pp 47-55 (2017)
بيانات النشر: ABV-press, 2017.
سنة النشر: 2017
المجموعة: LCC:Neurology. Diseases of the nervous system
مصطلحات موضوعية: дистальная наследственная моторная нейропатия, аксональная нейропатия, нейромиотония, hint1, Neurology. Diseases of the nervous system, RC346-429
الوصف: Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness, atrophy of hand and leg muscles often associated with deformations, and mild to moderate sensory loss. Axonal neuropathy with neuromyotonia (AR-ANM) is one of the rarest autosomal recessive hereditary neuropathies. Materials and methods. Six (6) patients (4 men, 2 women) aged 14–40 years from unrelated families with suspicion of HMSN were examined clinically, neurophysiologically and using DNA analysis. Results. Neurophysiological examination revealed motor and sensory neuropathy with neuromyotonia signs in all patients. In all cases homozygous variant of recessive mutations с.110G/C (р.Arg37Pro) in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) has been revealed. Conclusion. There is the first description of the clinical and neurophysiological features of six patients with AR-ANM in Russia.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: Russian
تدمد: 2222-8721
2413-0443
Relation: https://nmb.abvpress.ru/jour/article/view/213; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443
DOI: 10.17650/2222-8721-2017-7-3-47-55
URL الوصول: https://doaj.org/article/b27ffc0c525e43ec8645e495ae9e4dda
رقم الأكسشن: edsdoj.b27ffc0c525e43ec8645e495ae9e4dda
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:22228721
24130443
DOI:10.17650/2222-8721-2017-7-3-47-55