Key result
ANO5 mutations in 7 patients were associated with muscle amyloid deposition (3 patients), cardiac involvement (3 patients), and electrical myotonia (3 patients).
Population
7 unrelated patients with ANO5-muscular dystrophy
Design
Case_series
Authors
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ANO5 mutations may warrant inclusion in genetic evaluation of unexplained muscle amyloidosis; leaves open prevalence and cardiac screening implications pending larger studies.
Observational (n=7)
ANO5 mutations can be associated with muscle amyloid deposition and cardiac involvement, suggesting ANO5 analysis should be considered in cases of muscle amyloidosis of indeterminate etiology.
Liewluck et al. (2013) conducted an observational in ANO5-muscular dystrophy (n=7). ANO5 mutations was evaluated on Phenotype and genotype characteristics. ANO5 mutations in 7 patients were associated with muscle amyloid deposition (3 patients), cardiac involvement (3 patients), and electrical myotonia (3 patients).
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