Abstract
Anoctamin 5 and dysferlin mutations can result in myopathies with similar clinical phenotype. Amyloid deposits can occur in the muscle of patients with dysferlinopathy. We describe a 53-year-old woman with exercise intolerance since childhood, recurrent rhabdomyolysis and late-onset weakness. Muscle biopsy showed amyloid deposits within the blood vessel walls and around muscle fibers. Mutation analysis identified two pathogenic heterozygous mutations in anoctamin 5 and no mutations in dysferlin. To our knowledge this is the first report of muscle amyloidosis in anoctamin 5 muscular dystrophy. This finding suggests that patients with amyloid in muscle should be screened for anoctamin 5 muscular dystrophy.
Original language | English (US) |
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Pages (from-to) | 13-15 |
Number of pages | 3 |
Journal | Neuromuscular Disorders |
Volume | 22 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2012 |
Keywords
- ANO5
- Amyloidosis
- Anoctamin 5
- Anoctaminopathy
- Muscular dystrophy
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Clinical Neurology
- Genetics(clinical)