'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
J Neuromuscul Dis
; 11(1): 213-219, 2024.
Article
em En
| MEDLINE
| ID: mdl-38143368
ABSTRACT
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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Base de dados:
MEDLINE
Assunto principal:
Polineuropatias
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Atrofia Muscular Espinal
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Doenças do Sistema Nervoso Periférico
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Doenças Musculares
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article