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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...

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Archive ouverte | Malfatti, Edoardo | CCSD

International audience. Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the musc...

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Archive ouverte | Biancalana, Valérie | CCSD

International audience. Abstract The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca 2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca 2+ -dependent musc...

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