کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3054973 | 1580058 | 2008 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Differential diagnosis of congenital muscular dystrophies
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Differential diagnosis of congenital muscular dystrophies Differential diagnosis of congenital muscular dystrophies](/preview/png/3054973.png)
چکیده انگلیسی
Congenital muscular dystrophies (CMDs) are defined by signs of muscle weakness in the first 6 months of life with myopathic changes in muscle biopsy. The progress in the last decade has helped to make molecular and genetic diagnoses in the majority of patients fulfilling these criteria. In a number of patients a definite diagnosis cannot be reached and these individuals are often grouped together as “merosin positive” congenital muscular dystrophy. In the last 5 years, 25 patients referred for assessment as possible congenital muscular dystrophy have been found to have alternative diagnoses. This paper aims to highlight these conditions as the common differentials or more difficult to diagnoses to consider in patients presenting as CMD.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 12, Issue 5, September 2008, Pages 371–377
Journal: European Journal of Paediatric Neurology - Volume 12, Issue 5, September 2008, Pages 371–377
نویسندگان
Andrea Klein, Emma Clement, Eugenio Mercuri, Francesco Muntoni,