| Myopathy (5) |  |
myobundles undergo dose-dependent hypertrophy or toxic myopathy similar to clinical outcomes. Human myobundles provide an enabling platform for predictive drug
"In all six cases of myopathy, or muscle weakness, these children had undergone extensive, expensive and invasive testing--often over many years--without a successful diagnosis,
"To our knowledge, this is the first reported case of severe congenital myopathy with ophthalmoplegia resulting from pathogenic variants in CACNA1S,
In another closely related case, TGEN's genetic testing found a pathogenic variant in the RYR1 gene in a case of calcium channel myopathy.
"In three of the six cases, the children had Collagen 6 myopathies, or weaknesses. Collagen is essential to holding together muscles, tendons, skin, cartilage and the disks between vertebras.
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