The study of autosomal recessive CMT-disease with using a new medical technologies «One tube detection system for most common recessive CMT-mutation»

Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth or CMT disease) is a clinically and genetically heterogeneous group of hereditary diseases affecting the peripheral nervous system. More than 50 CMT-genes are known. All types of inheritance have been described for this disease: autosomal dominant, autosomal recessive, X-linked dominant and recessive. Protein products of CMT-genes expressed in peripheral nerves and result in is the similar phenotype polyneuropathy. Clinical manifestations similar mutations of different genes, as well as various types of inheritance makes it impossible to determine the patient’s risk of giving birth in the family without verification of the diagnosis by molecular genetic methods. At least 5% of all cases of CMT are autosomal recessive inheritance - CMT4. The paper presents the results of a study in Russian CMT patients using new medical technology «One tube detection system for most common recessive CMT-mutation».

наследственная моторно-сенсорная нейропатия, НМСН4, FGD4, FIG4, GDAP1, SH3TC2, hereditary motor and sensory neuropathy, CMT4, FGD4, FIG4, GDAP1, SH3TC2

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