Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

Francesca Moro; Anna Rubegni; Francesca Pochiero; Serena Mero; Elena Procopio; Jacopo Baldacci; Maria A. Donati; Filippo M. Santorelli

doi:10.1016/j.nmd.2018.11.006

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

Francesca Moro, Anna Rubegni, Francesca Pochiero, Serena Mero, Elena Procopio, Jacopo Baldacci, Maria A. Donati, Filippo M. Santorelli

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Neuromuscular Disorders
DOIs	https://doi.org/10.1016/j.nmd.2018.11.006
Publication status	Accepted/In press - Jan 1 2018

Keywords

Batten disease
CLN3
High CPK
Neuronal ceroid lipofuscinosis
Vacuolar myopathy

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Clinical Neurology
Genetics(clinical)

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10.1016/j.nmd.2018.11.006

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title = "Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report",

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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AU - Moro, Francesca

AU - Rubegni, Anna

AU - Pochiero, Francesca

AU - Mero, Serena

AU - Procopio, Elena

AU - Baldacci, Jacopo

AU - Donati, Maria A.

AU - Santorelli, Filippo M.

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N2 - 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.

AB - 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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Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

Abstract

Keywords

ASJC Scopus subject areas

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