Key result
Exome sequencing in a 14-year-old patient with suspected myopathy revealed a novel homozygous nonsense mutation in the SLC39A13 gene, expanding the clinical phenotype of SCD-EDS.
Population
14-year-old German patient initially suspected to suffer from myopathy based on clinical, radiological, and…
Design
Case_report
Authors
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Supports genetic overlap in myopathy and connective tissue disorders; extends phenotypic spectrum but remains hypothesis-generating.
Case Report (n=1)
A novel homozygous nonsense mutation in SLC39A13 can present initially as myopathy, expanding the clinical phenotype of spondylocheiro dysplastic Ehlers Danlos syndrome.
Dusanic et al. (2018) conducted a case report in Myopathy / Spondylocheiro dysplastic Ehlers Danlos syndrome (SCD-EDS) (n=1). SLC39A13 gene mutation was evaluated on Identification of causative gene. Exome sequencing in a 14-year-old patient with suspected myopathy revealed a novel homozygous nonsense mutation in the SLC39A13 gene, expanding the clinical phenotype of SCD-EDS.
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