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Frongia, Ivana; Spagnoli, Carlotta; Rizzi, Susanna; Frattini, Daniele; Leon, Alberta; Caraffi, Stefano Giuseppe; Pollazzon, Marzia; Garavelli, Livia; Pisani, Francesco; Fusco, Carlo
Journal of neuromuscular diseases, 01/2024, Letnik: 11, Številka: 1Journal Article
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 pathogenic TRIP4 variant in two siblings with severe phenotype and mixed sensory-motor polyneuropathy. The reviewed phenotypic spectrum is broad, but sensory-motor polyneuropathy is so-far unreported. We thus expand ASC-1 related myopathy phenotype.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
| Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
|---|---|---|---|---|---|---|---|---|
| JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP | |
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| Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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