PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypotonia |
| Phenotype | C0026848|myopathy |
| Sentences | 3 |
| PubMedID- 23704099 | Mtdna depletion has also been identified in early onset hypotonia with myopathy and hepatic involvement, caused by mutations in either thymidine kinase (tk2) or deoxyguanosine kinase (dguok).94 mutations in both of these genes cause a reduction in the mtdna nucleotide pooling, reducing replication efficiency. |
| PubMedID- 22448243 | For example, reduced collagen vi in bethlem myopathy leads to proximal hypotonia and distal joint contractures [9], [70], whereas ullrich congenital muscular dystrophy can be associated with hip laxity [10]. |
| PubMedID- 20589068 | One variant leads to muscle weakness in later adult life while the other leads to hypotonia during infancy with subsequent progressive myopathy leading to early death in younger children. |
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