Associated Papers
Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.
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Human Genomics, 2026
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
A progressive KY myopathy could be caused by a missense pathogenic variant.
Uhrova-Meszarosova A et al.
Clinical Genetics, 2023
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