Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
about
Congenital myopathies: clinical phenotypes and new diagnostic tools.Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root PatterningCentronuclear myopathies under attack: A plethora of therapeutic targets
P2860
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
@en
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
@nl
type
label
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
@en
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
@nl
prefLabel
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
@en
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
@nl
P2093
P2860
P50
P1476
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
@en
P2093
Aleksandra Nadaj Pakleza
Ana Lía Taratuto
Anne Boland
Bruno Eymard
Caroline A Sewry
Carsten G Bönnemann
Charlotte Jane Sumner
Clémence Labasse
Diana X Bharucha-Goebel
Edoardo Malfatti
P2860
P2888
P304
P356
10.1007/S00401-016-1656-8
P577
2016-12-23T00:00:00Z