Associated Papers
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
Frongia I et al.
Journal of Neuromuscular Diseases, 2024
38143368 (PubMed )
Supplement: jnd-11-jnd230110-s001.xlsx › Foglio1
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L et al.
Human Molecular Genetics, 2016
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