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Article

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Neurology - 10 Jun 2014

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 24827497
DOI: 10.1212/WNL.0000000000000490
PMCID: PMC4118497

Genes

CLN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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