{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(3)"],"submitter":["Ozturk O"],"pubmed_abstract":["Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the <i>UBA1</i> gene lead to SMAX2. The <i>UBA1</i> gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Here, we describe a family presenting with hypotonia, muscle weakness, areflexia, contractures, weak cry, in association with other anomalies including myopathic face, scoliosis, tongue fibrillations, and cryptorchidism. Molecular analysis in 2 patients revealed a hemizygous pathogenic variant in the <i>UBA1</i> gene (NM_153280.3, NP_695012.1: c.1731C>T [p.Asn577Asn]) inherited from their carrier "],"journal":["Molecular syndromology"],"pagination":["246-253"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9149478"],"repository":["biostudies-literature"],"pubmed_title":["X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the <i>UBA1</i> Gene in a Family with Novel Findings from Turkey."],"pmcid":["PMC9149478"],"pubmed_authors":["Ozturk O","Bagıs H","Cavdartepe BE"],"additional_accession":[]},"is_claimable":false,"name":"X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the <i>UBA1</i> Gene in a Family with Novel Findings from Turkey.","description":"Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the <i>UBA1</i> gene lead to SMAX2. The <i>UBA1</i> gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Here, we describe a family presenting with hypotonia, muscle weakness, areflexia, contractures, weak cry, in association with other anomalies including myopathic face, scoliosis, tongue fibrillations, and cryptorchidism. Molecular analysis in 2 patients revealed a hemizygous pathogenic variant in the <i>UBA1</i> gene (NM_153280.3, NP_695012.1: c.1731C>T [p.Asn577Asn]) inherited from their carrier ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 May","modification":"2025-04-04T22:32:35.504Z","creation":"2025-02-19T03:23:49.28Z"},"accession":"S-EPMC9149478","cross_references":{"pubmed":["35707597"],"doi":["10.1159/000519640"]}}