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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Bibliographic Details
Main Authors:	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
Language:	Inglês
Published:	Lippincott Williams & Wilkins 2014
Subjects:	Article
Online Access:	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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Novel CLN3 mutation causing autophagic vacuolar myopathy

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