Novel CLN3 mutation causing autophagic vacuolar myopathy
- PMID: 24827497
- PMCID: PMC4118497
- DOI: 10.1212/WNL.0000000000000490
Novel CLN3 mutation causing autophagic vacuolar myopathy
Abstract
Objective: To identify the genetic cause of a complex syndrome characterized by autophagic vacuolar myopathy (AVM), hypertrophic cardiomyopathy, pigmentary retinal degeneration, and epilepsy.
Methods: Clinical, pathologic, and genetic study.
Results: Two brothers presented with visual failure, seizures, and prominent cardiac involvement, but only mild cognitive impairment and no motor deterioration after 40 years of disease duration. Muscle biopsy revealed the presence of widespread alterations suggestive of AVM with autophagic vacuoles with sarcolemmal features. Through combined homozygosity mapping and exome sequencing, we identified a novel p.Gly165Glu mutation in CLN3.
Conclusions: This study expands the clinical phenotype of CLN3 disease. Genetic testing for CLN3 should be considered in AVM with autophagic vacuoles with sarcolemmal features.
© 2014 American Academy of Neurology.
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Comment in
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Novel CLN3 mutation causing autophagic vacuolar myopathy.Neurology. 2015 Feb 10;84(6):632. doi: 10.1212/WNL.0000000000001248. Neurology. 2015. PMID: 25666632 No abstract available.
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Author response.Neurology. 2015 Feb 10;84(6):632. Neurology. 2015. PMID: 25811064 No abstract available.
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