Novel CLN3 mutation causing autophagic vacuolar myopathy

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, seizu...

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Hauptverfasser: Cortese, Andrea, Tucci, Arianna, Piccolo, Giovanni, Galimberti, Carlo A., Fratta, Pietro, Marchioni, Enrico, Grampa, Gianpiero, Cereda, Cristina, Grieco, Gaetano, Ricca, Ivana, Pittman, Alan, Ciscato, Patrizia, Napoli, Laura, Lucchini, Valeria, Ripolone, Michela, Violano, Raffaella, Fagiolari, Gigliola, Mole, Sara E., Hardy, John, Moglia, Arrigo, Moggio, Maurizio
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2014
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4118497/
https://ncbi.nlm.nih.gov/pubmed/24827497
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000490
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