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芬兰患者的远端肌病。

Distal myopathies in Finnish patients.

作者信息

Palmio Johanna, Jokela Manu, Sandell Satu, Suominen Tiina, Penttilä Sini, Udd Bjarne

出版信息

Duodecim. 2016;132(18):1635-44.

Abstract

Distal myopathies are a group of rare muscular dystrophies comprising more than 20 different genetic entities. The first distal myopathy in Finland, tibial muscular dystrophy, was identified more than 20 years ago. Muscle weakness predominantly affects the feet and hands, although variable weakness can be detected clinically and on muscle MRI in the proximal muscles in the later stages of the disease. Advanced molecular genetic techniques have enabled identification of several distinct distal myopathies in Finland. The clinical findings of different distal myopathies overlap, but there are also distinguishable differences that might help final genetic diagnostics.

摘要

远端肌病是一组罕见的肌肉营养不良症,包括20多种不同的基因类型。芬兰首例远端肌病——胫骨肌营养不良症,于20多年前被发现。肌无力主要影响足部和手部,不过在疾病后期,临床检查以及肌肉磁共振成像(MRI)检查可发现近端肌肉存在程度不一的肌无力。先进的分子遗传学技术已使芬兰鉴别出了几种不同的远端肌病类型。不同远端肌病的临床症状有重叠之处,但也存在一些可资鉴别的差异,这或许有助于最终的基因诊断。

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