Rhabdomyolysis: A genetic perspective

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Scalco, Renata Siciliani ^a,b,c   Gardiner, Alice R ^a   Pitceathly, Robert Ds ^a,d   Zanoteli, Edmar ^e   Becker, Jefferson ^b   Holton, Janice L ^a   Houlden, Henry ^a   Jungbluth, Heinz ^d,f,g   Quinlivan, Ros ^a,h  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b PONTIFICAL CATHOLIC UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c MINISTRY OF EDUCATION OF BRAZIL   (Brazil)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^g KING'S COLLEGE LONDON   (United Kingdom)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Diagnosis; Gene; Genetic; Increased CK; Muscle Biopsy; Muscle metabolism; Myoglobinuria; Neuromuscular disorders; Pathology; Phenotype; Polymorphism; Rhabdomyolysis; Triggers

Indexed keywords

6 PHOSPHOFRUCTOKINASE ISOENZYME M; ACYL COENZYME A DEHYDROGENASE; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE II; ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE; ELECTRON TRANSFERRING FLAVOPROTEIN; ENOLASE; ENOLASE 3; FRUCTOSE BISPHOSPHATE ALDOLASE; GLYCOGEN PHOSPHORYLASE; PHOSPHOGLUCOMUTASE; PHOSPHOGLYCERATE KINASE; PHOSPHOGLYCERATE KINASE 1; PHOSPHOGLYCERATE MUTASE; PHOSPHOGLYCERATE MUTASE 2; PHOSPHORYLASE KINASE; PHOSPHORYLASE KINASE, BETA SUBUNIT; PHOSPHORYLASE KINASE, LIVER, ALPHA 2 SUBUNIT; PHOSPHORYLASE KINASE, MUSCLE, ALPHA 1 SUBUNIT; PHOSPHORYLASE KINASE, TESTIS LIVER, GAMMA 2; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

ACADVL GENE; ACE GENE; ACTN3 GENE; ALDOA GENE; ANO5 GENE; ARTICLE; CALCIUM TRANSPORT; CCL2 GENE; CCR2 GENE; CKMM GENE; CPT2 GENE; DGUOK GENE; DISEASE ASSOCIATION; DISORDERS OF EXCITATION CONTRACTION COUPLING; DISORDERS OF FATTY ACID METABOLISM; DISORDERS OF GLYCOGEN METABOLISM; DISORDERS OF INTRAMUSCULAR CALCIUM RELEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DMD GENE; DYSF GENE; ENO3 GENE; ETFA GENE; ETFB GENE; ETFDH GENE; EXCITATION CONTRACTION COUPLING; FATTY ACID METABOLISM; FDX1L GENE; FKRP GENE; FKTN GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 5; HADHA GENE; HADHB GENE; HUMAN; IGF II GENE; IL6 GENE; ISCU GENE; LPIN1 GENE; METABOLIC DISORDER; MTCO1 GENE; MTCO2 GENE; MTCO3 GENE; MTCYB GENE; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; MYLK GENE; PATHOGENESIS; PFKM GENE; PGAM2 GENE; PGK1 GENE; PGM1 GENE; PHENOTYPE; PHKA1 GENE; PHKA2 GENE; PHKB GENE; PHKG2 GENE; POLG1 GENE; PYGM GENE; RHABDOMYOLYSIS; RYR1 GENE; SIL1 GENE; TNFA GENE; TSEN54 GENE; ENZYMOLOGY; GENETICS; METABOLISM; PATHOPHYSIOLOGY;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; PHENOTYPE; RHABDOMYOLYSIS;

EID: 84938306463     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0264-3     Document Type: Article

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