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

Claudia Di Blasi, Behzad Moghadaszadeh, Claudia Ciano, Tiziana Negri, Alessio Giavazzi, Ferdinando Cornelio, Lucia Morandi, Marina Mora

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)133-138
Number of pages6
JournalAnnals of Neurology
Volume56
Issue number1
DOIs
Publication statusPublished - Jul 2004

ASJC Scopus subject areas

  • Neuroscience(all)

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