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Updated: Feb 1, 2026

Single Cell Measurements of Vacuolar Rupture Caused by Intracellular Pathogens
Published on: June 12, 2013
Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report
Francesca Moro1, Anna Rubegni1, Francesca Pochiero2
1Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Pisa 56128, Italy.
Abstract:
We present a 29-year-old man with visual failure since childhood, muscle weakness, subtle heart muscle hypertrophy, and seizures who was initially considered to be affected by a mitochondrial encephalomyopathy because of the multiple unspecific involvement of brain, muscle and retinal tissues. Only the muscle biopsy findings correctly guided the genetic investigations and the identification of an autophagic vacuolar myopathy due to a homozygous mutation in CLN3. We believe that information in autophagic muscle disorders should further alert clinicians to consider CLN3 in individuals with vacuolar myopathy, especially if they have visual and cardiac involvement.
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