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Нервно-мышечные болезни

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Немалиновые миопатии: клиническое разнообразие и генетическая гетерогенность


https://doi.org/10.17650/2222-8721-2013-0-1-8-17

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Аннотация

Врожденные миопатии составляют гетерогенную группу генетических мышечных патологий, вызванных структурной аномалией скелетной мышцы. Немалиновая миопатия принадлежит к обширной группе врожденных миопатий с белковыми включениями и характеризуется присутствием небольших включений в форме нитей, названных “rod”(англ., «стержень, прутик»). Речь идет о генетически обособленной группе, в которой идентифицированные основные ответственные гены кодируют белки тонких филаментов саркомеров. При этом сегодня гены определены лишь для 50 % известных случаев (ACTA 1, NEB, TPM2, TPM3, TNNT1, CFL2 и KBTBD13). Последнее обстоятельство требует продолжения научных поисков в этой мало раскрытой области.

Об авторе

Норма Беатриз Ромеро
Отделение нервно-мышечной патологии, Институт миологии, университетская клиника Питье-Сальпетриер, Париж
Россия


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Для цитирования:


Беатриз Ромеро Н. Немалиновые миопатии: клиническое разнообразие и генетическая гетерогенность. Нервно-мышечные болезни. 2013;(1):8-17. https://doi.org/10.17650/2222-8721-2013-0-1-8-17

For citation:


. . Neuromuscular Diseases. 2013;(1):8-17. (In Russ.) https://doi.org/10.17650/2222-8721-2013-0-1-8-17

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ISSN 2222-8721 (Print)
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