Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy

Annals of Neurology
Claudia Di BlasiMarina Mora

Abstract

We describe a second large Italian kindred with autosomal dominant vacuolar myopathy characterized by variable severity, adult-onset weakness of distal limb muscles, and no cardiac involvement. At least 19 individuals over four generations are affected. Histopathological and immunochemical features of the vacuoles, present in many fibers, indicate protein degradation abnormalities with dysregulation of the lysosomal pathway and activation of the ubiquitin-proteasomal pathway. Linkage analysis localized the defect to the 19p13.3 locus in a region with no known genes. We speculate that the primary defect may be an abnormality in the lysosomal degradation pathway or related components.

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Citations

Jun 18, 2010·Brain : a Journal of Neurology·Sebahattin CirakThomas Voit
Aug 6, 2013·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Narges MoghimiAnna M Szekely
Jul 20, 2014·Neurologic Clinics·Mazen M Dimachkie, Richard J Barohn
Sep 7, 2013·Revue neurologique·I Pénisson-Besnier
May 27, 2020·Acta Neuropathologica·Alessandra RuggieriBerge A Minassian
Sep 13, 2005·Current Opinion in Neurology·Frank L MastagliaNigel G Laing

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