TRIM32 is a member of the Tripartite-Motif family of proteins characterized by a RING finger, a B-box motif, a coiled-coil region and six NHL-repeats. TRIM32 has E3 ubiquitin ligase activity by participating in myofibrillar protein turnover. D487N mutation in the TRIM32 gene, has been associated with Limb Girdle Muscular Dystrophy Recessive type 8 (LGMDR8) in the inbred Hutterite population. We reported R596G homozygous missense variant in TRIM32 gene in a 54-year-old patient with LGMD from south Italy.
HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT
Patrizia Spadafora;Luigi Citrigno;Selene De Benedittis;Antonio Qualtieri;Francesca Cavalcanti;Gemma Di Palma;Olivier Gallo;Nelide Romeo
2023
Abstract
TRIM32 is a member of the Tripartite-Motif family of proteins characterized by a RING finger, a B-box motif, a coiled-coil region and six NHL-repeats. TRIM32 has E3 ubiquitin ligase activity by participating in myofibrillar protein turnover. D487N mutation in the TRIM32 gene, has been associated with Limb Girdle Muscular Dystrophy Recessive type 8 (LGMDR8) in the inbred Hutterite population. We reported R596G homozygous missense variant in TRIM32 gene in a 54-year-old patient with LGMD from south Italy.File in questo prodotto:
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Descrizione: HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT
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