| http://purl.uniprot.org/citations/36864287 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/36864287 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the FHL1 gene can be associated with a variety of X-linked myopathies and cardiomyopathies, among which X-linked dominant scapuloperoneal myopathy is a rare phenotype. We collected the clinical data of two unrelated Chinese patients with X-linked scapuloperoneal myopathy and analyzed their clinical, pathological, muscle imaging, and genetic features. Both patients were characterized by scapular winging, bilateral Achilles tendon contractures, and weakness in shoulder-girdle and peroneal muscles. Muscle biopsy revealed myopathic changes, and no reducing bodies were found. Muscle magnetic resonance imaging was dominated by fatty infiltration, with minor edema-like findings. Genetic analysis revealed two novel mutations in the FHL1 gene: c.380T > C (p.F127S) and c.802C > T (p.Q268*), which were located in the LIM2 domain and the C-terminal sequence, respectively. To our knowledge, this is the first report of X-linked scapuloperoneal myopathy in the Chinese population. Our findings broadened the genetic and ethnic spectrum of FHL1-related disorders and proposed to look for variants in the FHL1 gene when scapuloperoneal myopathy is observed in the clinical work."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.org/dc/terms/identifier | "doi:10.1038/s10038-023-01138-0"xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/author | "Chen J."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/author | "Liu J."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/author | "Liu M."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/author | "Lin Y."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/author | "Shi Q."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/author | "Qiao L."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/author | "Ban R."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/name | "J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/pages | "477-484"xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/title | "Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients."xsd:string |
| http://purl.uniprot.org/citations/36864287 | http://purl.uniprot.org/core/volume | "68"xsd:string |
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