'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
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ABSTRACT:
SUBMITTER: Frongia I
PROVIDER: S-EPMC10789366 | biostudies-literature | 2024
REPOSITORIES: biostudies-literature
Publications
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
Frongia Ivana I Spagnoli Carlotta C Rizzi Susanna S Frattini Daniele D Leon Alberta A Caraffi Stefano Giuseppe SG Pollazzon Marzia M Garavelli Livia L Pisani Francesco F Fusco Carlo C
Journal of neuromuscular diseases 20240101 1
Activating Signal Cointegrator 1 complex (ASC-1 complex) is a ribonucleoprotein tetramer participating in transcriptional coactivation and RNA processing, consisting of four subunits: ASCC1-ASCC3 and ASC-1. Pathogenic variants in the TRIP4 and ASCC1 genes, encoding the ASC-1 and ASCC1 subunits, were recently described in congenital myopathic conditions without signs of motor neuron involvement, and Spinal Muscular Atrophy-like (SMA-like) phenotype with prenatal bone fractures. We present a novel ...[more]
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