Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?
Durmuş H, Clemen CS, Uçar EÖ, Hofmann A, Schlötzer-Schrehardt U, Mertoğlu E, Ceylaner S, Dursun M, Sewry CA, Schröder R, Parman Y (2026)
Publication Type: Journal article
Publication year: 2026
Journal
Book Volume: 13
Pages Range: 795-801
Journal Issue: 4
DOI: 10.1177/22143602251387026
Abstract
Homozygous KY variants have been described to cause congenital myopathy, myofibrillar myopathy type 7, and hereditary spastic paraplegia. We report the findings in two families harboring the homozygous missense NM_178554.4:c.727T > C p.(Cys243Arg) and splice site NM_178554.4:c.710 + 1G > A KY variants leading to early-onset myopathy with equinovarus deformity, lateral tongue atrophy, kyphoscoliosis, and contractures. Myopathological examination showed a myopathic pattern in conjunction with fibers containing eosinophilic sarcoplasmic inclusions positive for kyphoscoliosis peptidase and filamin-C but not desmin, myofibrillar degeneration, and focal mitochondrial loss. Kyphoscoliosis peptidase protein expression levels were markedly reduced, and in silico analysis of the predicted protein variants suggested impairment of the kyphoscoliosis peptidase catalytic triad.
Authors with CRIS profile
Involved external institutions
Istanbul University / İstanbul Üniversitesi
Turkey (TR)
Deutsches Zentrum für Luft- und Raumfahrt e.V. (DLR) / German Aerospace Center
Germany (DE)
INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center
Turkey (TR)
University College London (UCL)
United Kingdom (GB)
Turkey (TR)
Deutsches Zentrum für Luft- und Raumfahrt e.V. (DLR) / German Aerospace Center
Germany (DE)
INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center
Turkey (TR)
University College London (UCL)
United Kingdom (GB)
How to cite
APA:
Durmuş, H., Clemen, C.S., Uçar, E.Ö., Hofmann, A., Schlötzer-Schrehardt, U., Mertoğlu, E.,... Parman, Y. (2026). Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy? Journal of Neuromuscular Diseases, 13(4), 795-801. https://doi.org/10.1177/22143602251387026
MLA:
Durmuş, Hacer, et al. "Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?" Journal of Neuromuscular Diseases 13.4 (2026): 795-801.
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