Dysferlin-deficient muscular dystrophy features amyloidosis
| العنوان: | Dysferlin-deficient muscular dystrophy features amyloidosis |
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| المؤلفون: | Miriam Carl, Joanna Zabojszcza, Steven A. Moore, Christoph Röcken, Uwe Vinkemeier, Sylvia Bähring, Simone Spuler, Volker Straub, Katrin Wenzel, Kate Bushby |
| المصدر: | Annals of Neurology. 63:323-328 |
| بيانات النشر: | Wiley, 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Pathology, Molecular Sequence Data, Muscle Proteins, Gene mutation, Dysferlin, Internal medicine, medicine, Humans, Amino Acid Sequence, Muscular dystrophy, Myopathy, Aged, Muscle biopsy, biology, medicine.diagnostic_test, Amyloidosis, Membrane Proteins, Middle Aged, medicine.disease, Protein Structure, Tertiary, Endocrinology, Amino Acid Substitution, Muscular Dystrophies, Limb-Girdle, Neurology, biology.protein, Female, Neurology (clinical), medicine.symptom, ITGA7, Limb-girdle muscular dystrophy |
| الوصف: | OBJECTIVE: Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood. METHODS: The gene encoding dysferlin was sequenced in patients with suspected dysferlin-deficient muscular dystrophy. Muscle biopsy specimens were analyzed by histochemistry, immunohistochemistry, and electron microscopy. Antibodies against N-terminal dysferlin-peptides were raised. RESULTS: We found three families with muscular dystrophy caused by homozygous or compound heterozygous DYSF mutations featuring sarcolemmal and interstitial amyloid deposits. These mutations were all located in the N-terminal region of the protein. Dysferlin was a constituent of the amyloid deposits. INTERPRETATION: Limb girdle muscular dystrophy type 2B is the first muscular dystrophy associated with amyloidosis. Molecular treatment strategies will necessarily have to consider the presence of amyloidogenesis. |
| تدمد: | 1531-8249 0364-5134 |
| DOI: | 10.1002/ana.21309 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b9bb84091d61a3b3fb773959f88b84 https://doi.org/10.1002/ana.21309 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....92b9bb84091d61a3b3fb773959f88b84 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15318249 03645134 |
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| DOI: | 10.1002/ana.21309 |