A clinical dataset summarizing demographic, clinical, and laboratory data for 30 patients with genetically confirmed ADSS1 myopathy. The data was compiled by Soo-Hyun Kim and last updated on April 13, 2026. Onset classification is based on the initial muscle weakness pattern, and genetic variants are described according to the NM_199165 transcript.
Use Cases
- Correlating genetic variants with clinical presentation based on the described NM_199165 transcript variants.
- Analyzing patterns of muscle weakness onset (proximal vs. distal) across the patient cohort.
- Studying the relationship between demographic factors and laboratory findings in ADSS1 myopathy.
Strengths
- Data is from 30 genetically confirmed patients, providing a specific cohort.
- Includes multiple data types: demographic, clinical, and laboratory variables.
- Released under a permissive CC-BY-4.0 license for reuse.
Limitations
- Row count is unknown, which may limit suitability assessment.
- Column-level documentation is absent; field semantics must be inferred after download.
- The 13.3 KB file size indicates a very small dataset with limited scope.
Provenance
- Source
- Soo-Hyun Kim, via figshare.
- Collection Method
- Summarized from genetically confirmed patient records.
- Time Range
- null
- Freshness
- Last updated 2026-04-13 17:24:47; freshness should be verified.
- Geography
- null