التفاصيل البيبلوغرافية
العنوان: |
Oculopharyngeal myopathy. Histochemical observation of the muscles and concentration of immunoglobulins in the serum of an Italian family. |
المؤلفون: |
G. Campanella, L. Serlenga, A. Federico, G. A. Buscaino, FILLA, ALESSANDRO |
المساهمون: |
G., Campanella, Filla, Alessandro, L., Serlenga, A., Federico, G. A., Buscaino |
سنة النشر: |
1975 |
المجموعة: |
IRIS Università degli Studi di Napoli Federico II |
مصطلحات موضوعية: |
Adult, Aged, Creatine Kinase, analysis, Female, Histocytochemistry, Humans, Immunoglobulin A, Immunoglobulin G, Immunoglobulin M, Immunoglobulin, L-Lactate Dehydrogenase, Male, Middle Aged, Muscle, enzymology, Muscular Dystrophie, genetics/immunology/pathology, Oculomotor Muscle, pathology, Pharyngeal Disease, Syndrome |
الوصف: |
We reported the first Italian family with oculopharyngeal myopathy. Five of six brothers, aged 60 to 76, showed to a different degree ptosis of the eyelids, ophtalmoparesis, hypomimic face, troubles in chewing, swallowing and speaking, some wiggling gait, and a widespread, mainly proximal, muscular hypotrophy and weakness. Characteristic of this disease are its hereditary transmission of dominant autosomic type, its late appearance also after 50 years of age and its slow progression without periods of improvement. Electromyography, histologic and histochemical study of extra-ocular muscles were performed in two patients and showed clear changes of myopathic type. Besides, we found in 3 patients increased serum immunoglobulins, chiefly IgG, as first Russe, Busey and Barbeau demonstrated in a large French-Canadian family. |
نوع الوثيقة: |
article in journal/newspaper |
وصف الملف: |
STAMPA |
اللغة: |
unknown |
العلاقة: |
info:eu-repo/semantics/altIdentifier/pmid/1224116; volume:131; firstpage:615; lastpage:628; numberofpages:13; journal:REVUE NEUROLOGIQUE; http://hdl.handle.net/11588/479168Test |
الإتاحة: |
http://hdl.handle.net/11588/479168Test |
رقم الانضمام: |
edsbas.572FA9F |
قاعدة البيانات: |
BASE |