Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

doi:10.1007/s00401-016-1656-8

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Article

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Acta neuropathologica - 1 Apr 2017

Schartner Vanessa, Romero Norma B, Donkervoort Sandra, Treves Susan, Munot Pinki, Pierson Tyler Mark, Dabaj Ivana, Malfatti Edoardo, Zaharieva Irina T, Zorzato Francesco, Abath Neto Osorio, Brochier Guy, Lornage Xavière, Eymard Bruno, Taratuto Ana Lía, Böhm Johann, Gonorazky Hernan, Ramos-Platt Leigh, Feng Lucy, Phadke Rahul, Bharucha-Goebel Diana X, Sumner Charlotte Jane, Bui Mai Thao, Lacene Emmanuelle, Beuvin Maud, Labasse Clémence, Dondaine Nicolas, Schneider Raphael, Thompson Julie, Boland Anne, Deleuze Jean-François, Matthews Emma, Pakleza Aleksandra Nadaj, Sewry Caroline A, Biancalana Valérie, Quijano-Roy Susana, Muntoni Francesco, Fardeau Michel, Bönnemann Carsten G, Laporte Jocelyn

Abstract excerpt

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 voltage-gated L-type Ca2+ channel (dihydropyridine receptor; DHPR) located on the T-tubule with a Ca2+ release channel (ryanodine receptor; RYR1) on the sarcoplasmic reticulum (SR)...

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PMID: 28012042
DOI: 10.1007/s00401-016-1656-8

Genes

RYR1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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