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Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Archive ouverte | Jungbluth, Heinz | CCSD

Centronuclear myopathy is a genetically heterogeneous congenital myopathy. Whilst mutations in the myotubularin (MTM1) gene are implicated in the X-linked variant, mutations in the dynamin 2 (DNM2) gene have been recently associat...

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

Archive ouverte | Robb, Stephanie | CCSD

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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Archive ouverte | Schartner, Vanessa | CCSD

Muscle contraction upon nerve stimulation relies on excitation-contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the direct coupling of a v...

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