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Novel CLN3 mutation causing autophagic vacuolar myopathy

Andrea Cortese1, Arianna Tucci2, Giovanni Piccolo2

  • 1From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy. andrea.cortese@mondino.it.

Neurology
|May 16, 2014
PubMed
Summary

Genetic analysis identified a novel CLN3 mutation in two brothers with a rare syndrome including autophagic vacuolar myopathy and cardiomyopathy. This finding expands the known clinical spectrum of CLN3 disease.

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