Associated Papers
Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?
Durmuş H et al.
Journal of Neuromuscular Diseases, 2025
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.
Misumi Y et al.
Journal of Human Genetics, 2024
A novel homozygous KY variant causing a complex neurological disorder.
Arif B et al.
European Journal of Medical Genetics, 2020
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y et al.
European Journal of Human Genetics : Ejhg, 2017
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
Hedberg-Oldfors C et al.
European Journal of Human Genetics : Ejhg, 2016
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