eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital fiber type disproportion |
| Comorbidity | C0026848|myopathy |
| Sentences | 2 |
| PubMedID- 21288719 | This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. |
| PubMedID- 21267004 | In this study, we report a 30-year longitudinal clinical survey of a patient harboring a novel severe and complex phenotype, combining an early-onset progeroid syndrome and a congenital myopathy with fiber-type disproportion. |
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