Published in
American Academy of Neurology (AAN), Neurology, 6(84), p. 632-632, 2015
DOI: 10.1212/wnl.0000000000001248
American Academy of Neurology (AAN), Neurology, 23(82), p. 2072-2076
DOI: 10.1212/wnl.0000000000000490
Links
- ORCID
- American Academy of Neurology (AAN)
- ORCID
- American Academy of Neurology (AAN)
- [www.ncbi.nlm.nih.gov] | PDF
- [discovery.ucl.ac.uk]
- [www.ncbi.nlm.nih.gov] | PDF
- [www.researchgate.net] | PDF
- [europepmc.org] | PDF
- [europepmc.org] | PDF
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Novel CLN3 mutation causing autophagic vacuolar myopathy
Journal article published in 2014 by
Giovanni Piccolo,
Carlo A. Galimberti,
Pietro Fratta,
Enrico Marchioni,
Andrea Cortese,
Gianpiero Grampa,
P. E. Taschner 
,
Cristina Cereda,
Raffaella Violano,
Gaetano Grieco,
Arianna Tucci,
Ivana Ricca,
Alan Pittman,
Patrizia Ciscato,
Laura Napoli
and other authors.
,
Cristina Cereda,
Raffaella Violano,
Gaetano Grieco,
Arianna Tucci,
Ivana Ricca,
Alan Pittman,
Patrizia Ciscato,
Laura Napoli
and other authors.
This paper is available in a repository.
Full text: Download
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Abstract
To identify the genetic cause of a complex syndrome characterized by autophagic vacuolar myopathy (AVM), hypertrophic cardiomyopathy, pigmentary retinal degeneration, and epilepsy.