کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9200484 | 1581088 | 2005 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene
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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: Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene](/preview/png/9200484.png)
چکیده انگلیسی
Some mutations of the lamin A/C gene may be responsible for a combination of distinct phenotypes, such as muscular dystrophy and peripheral neuropathy. We describe muscle and peripheral nerve lesions in a patient with a dominant lamin A/C missense mutation, E33D. Myopathic and neurogenic patterns coexisted on muscle biopsy specimens, whereas the peripheral nerve presented a mixture of axonopathy and Schwann cell hypertrophy. A few abnormal nuclei were found in muscle fibers and Schwann cells. Our morphological findings in this case attest to the predominant axonal damage, but suggest possible involvement of Schwann cells in neuropathies related to laminopathies.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 15, Issues 9â10, October 2005, Pages 618-621
Journal: Neuromuscular Disorders - Volume 15, Issues 9â10, October 2005, Pages 618-621
نویسندگان
Anne Vital, Xavier Ferrer, Cyril Goizet, Marie Rouanet-Larrivière, Sandrine Eimer, Gisèle Bonne, Claude Vital,