دورية أكاديمية

Oculopharyngeal myopathy. Histochemical observation of the muscles and concentration of immunoglobulins in the serum of an Italian family.

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