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| Item Type: | Article |
|---|---|
| Title: | Dysferlin-deficient muscular dystrophy features amyloidosis |
| Creators Name: | Spuler, S., Carl, M., Zabojszcza, J., Straub, V., Bushby, K., Moore, S.A., Bähring, S., Wenzel, K., Vinkemeier, U. and Rocken, C. |
| Abstract: | 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. |
| Keywords: | Amino Acid Sequence, Amino Acid Substitution, Amyloidosis, Limb-Girdle Muscular Dystrophies, Membrane Proteins, Molecular Sequence Data, Muscle Proteins, Tertiary Protein Structure |
| Source: | Annals of Neurology |
| ISSN: | 0364-5134 |
| Publisher: | Wiley |
| Volume: | 63 |
| Number: | 3 |
| Page Range: | 323-328 |
| Date: | March 2008 |
| Official Publication: | https://doi.org/10.1002/ana.21309 |
| PubMed: | View item in PubMed |
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