Миотоническая дистрофия 2-го типа

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Миотоническая дистрофия 2-го типа (ДМ2) – аутосомно-доминантная болезнь, связанная с экспансией 4-нуклеотидных повторов «цитозин-цитозин-тимин-гуанин» (ЦЦТГ) в гене ZNF9. Клинически ДМ2 описана в середине 1990-х гг., молекулярно-генетическая природа установлена в начале 2000-х гг. ДМ2 встречается реже, чем ДМ1, однако достаточно распространена у европейцев. В клинической картине преобладает сходство с ДМ1, но есть существенные отличия: более позднее начало, проксимальный характер миопатии, менее выраженная миотония, наличие миалгии и др. Клинические особенности затрудняют диагностику, ряд случаев своевременно не выявляется. В МГНЦ РАМН проводится ДНК-диагностика ДМ2, подтверждены на молекулярном уровне несколько случаев данного заболевания.

Об авторах

Г. E. Руденская

ФГБУ «Медико-генетический научный центр» РАМН

Автор, ответственный за переписку.
Email: geruden@gmail.com
Россия, Москва

A. В. Поляков

ФГБУ «Медико-генетический научный центр» РАМН

Email: geruden@gmail.com
Россия, Москва

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