کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3089925 | 1190248 | 2008 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Myopathies distales avec mutations du gène GNE : à propos de quatre cas
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
عصب شناسی
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چکیده انگلیسی
Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement. Among recessive forms, the myopathy resulting from mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, often designated as Nonaka myopathy, primarily affect young adults and are characterized by muscle wasting and weakness predominating on the anterior compartment of the leg, a remarkable quadriceps sparing and a frequent evolution towards ambulation loss after a few years. Finding rimmed vacuoles on muscle biopsy is a further argument for the diagnosis. However, the presentation and course may vary and we describe four patients who illustrate the clinical spectrum of the disease: the first patient had a classical form with progressive weakness over several years, the second one a rapidly progressive myopathy leading to ambulation loss within three years from onset, the third one a very slow course with no ambulation loss after several decades, and the last one a progressive form with misleading neurogenic features on the EMG. One of our four patients harbored a homozygous mutation, and three others were compound heterozygous, two of them displaying an original mutation: one had a c.2036Â TÂ >Â GÂ (p.Val679Gly) substitution, the c.829Â CÂ >Â TÂ (p.Arg277Cys) substitution.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revue Neurologique - Volume 164, Issue 5, May 2008, Pages 434-443
Journal: Revue Neurologique - Volume 164, Issue 5, May 2008, Pages 434-443
نویسندگان
A. Béhin, O. Dubourg, P. Laforêt, C. Pêcheux, R. Bernard, N. Lévy, B. Eymard,