[Phenomenon of anticipation in a patient with dystrophic myotonia type 1].

Q3 Medicine
Yu N Rushkevich, A A Gusina, E V Malgina, S A Likhachev, D A Antonenko
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引用次数: 0

Abstract

The article presents the authors' clinical observation of a patient with genetically confirmed dystrophic myotonia type 1 and describes the phenomenon of anticipation associated with an increase in the severity of symptoms, an earlier onset of the disease in each subsequent generation, and due to an increasing expansion and the sex of the parent transmitting the mutation. In the described family case, dystrophic myotonia type 1 was observed in four generations. It was inherited through the maternal line as an increase in the number of trinucleotide repeats in the DMPK gene and the severity of clinical symptoms in patients.

[1型肌强直患者的预期现象]。
本文介绍了作者对1型肌强直患者的临床观察,并描述了与症状严重程度增加相关的预期现象,随后每一代疾病的早期发病,以及由于传播突变的父母的扩大和性别的增加。在所描述的家族病例中,四代人观察到1型肌强直。它是通过母系遗传的DMPK基因中三核苷酸重复次数的增加和患者临床症状的严重程度。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.10
自引率
0.00%
发文量
287
审稿时长
3-6 weeks
期刊介绍: Одно из старейших медицинских изданий России, основанное в 1901 году. Создание журнала связано с именами выдающихся деятелей отечественной медицины, вошедших в историю мировой психиатрии и неврологии, – С.С. Корсакова и А.Я. Кожевникова. Широкий диапазон предлагаемых журналом материалов и разнообразие форм их представления привлекают внимание научных работников и врачей, опытных и начинающих медиков, причем не только неврологов и психиатров, но и специалистов смежных областей медицины.
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