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- Title
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
- Authors
Ruggieri, Alessandra; Naumenko, Sergey; Smith, Martin A.; Iannibelli, Eliana; Blasevich, Flavia; Bragato, Cinzia; Gibertini, Sara; Barton, Kirston; Vorgerd, Matthias; Marcus, Katrin; Wang, Peixiang; Maggi, Lorenzo; Mantegazza, Renato; Dowling, James J.; Kley, Rudolf A.; Mora, Marina; Minassian, Berge A.
- Abstract
Twenty-two individuals across four generations suffer a chromosome 19p13.3-linked autosomal dominant progressive myopathy with distinctive pathology including rimmed ubiquitin-positive autophagic vacuolation [[6]] (Fig. PCR amplification of this exon in patient genomic DNA and muscle RNA revealed the wild-type band, and a second ~ 1000 bp higher band (Fig. Many cases of Inclusion Body Myopathy, the most common of the myopathies, exhibit aggrephagic activation, including NBR1 deposition, not dissimilar to the present patients [[5]].
- Subjects
SKELETAL muscle; MUSCLE diseases; CARDIAC amyloidosis
- Publication
Acta Neuropathologica, 2020, Vol 140, Issue 2, p231
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-020-02164-4