TY - JOUR
T1 - Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report
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.
PY - 2018/1/1
Y1 - 2018/1/1
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.
KW - Batten disease
KW - CLN3
KW - High CPK
KW - Neuronal ceroid lipofuscinosis
KW - Vacuolar myopathy
UR - http://www.scopus.com/inward/record.url?scp=85058148699&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85058148699&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2018.11.006
DO - 10.1016/j.nmd.2018.11.006
M3 - Article
AN - SCOPUS:85058148699
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
ER -