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
Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.
Ehsani E et al.
European Journal of Medical Genetics, 2022
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