Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

about

Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis

P2860

Q57643561-9AB3548D-682C-49A3-BFB7-4B20A0FFA196

P2860

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

Item

http://www.wikidata.org/entity/Q47343401

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

@en

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

@nl

type

Item

label

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

@en

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

@nl

prefLabel

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

@en

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

@nl

P1476

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

@en

P2093

C Anandan

http://www.w3.org/2001/XMLSchema#string

M A Cipriani

http://www.w3.org/2001/XMLSchema#string

R S Laughlin

http://www.w3.org/2001/XMLSchema#string

Z Niu

http://www.w3.org/2001/XMLSchema#string

P2860

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution

Channelopathies of skeletal muscle excitability

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor

Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.

A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy.

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

P304

417-419

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1111/ENE.13528

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Margherita Milone

P577

2017-11-29T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29193480

http://www.w3.org/2001/XMLSchema#string

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

about

P2860

P2860

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698