Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

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 weaknes...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2012-01, Vol.22 (1), p.13-15
Main Authors: Milone, Margherita, Liewluck, Teerin, Winder, Thomas L, Pianosi, Paolo T
Format: Article
Language:English
Subjects:
Amyloid - genetics
Amyloid - metabolism
Amyloidosis
Amyloidosis - genetics
Amyloidosis - pathology
ANO5
Anoctamin 5
Anoctaminopathy
Anoctamins
Chloride Channels - genetics
Exercise Tolerance - genetics
Female
Humans
Middle Aged
Muscle, Skeletal - pathology
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Muscular dystrophy
Mutation - genetics
Neurology
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Summary: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2011.07.005