Rhabdomyolysis: a genetic perspective. (Q35908344)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25929793%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

review article

2 references

23 July 2020

Rhabdomyolysis: a genetic perspective (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25929793%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

2 references

23 December 2019

23 July 2020

genetic predisposition to disease

2 references

23 July 2020

10 September 2020

1 reference

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7 March 2020

Robert D S Pitceathly

1 reference

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7 March 2020

1 reference

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7 March 2020

Janice L Holton

1 reference

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7 March 2020

Alice R Gardiner

1 reference

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7 March 2020

Edmar Zanoteli

1 reference

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7 March 2020

Jefferson Becker

1 reference

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7 March 2020

Henry Houlden

1 reference

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7 March 2020

Ros Quinlivan

1 reference

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7 March 2020

publication date

2 May 2015

5 references

13 March 2019

23 December 2019

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7 March 2020

23 July 2020

10 September 2020

Orphanet Journal of Rare Diseases

4 references

13 March 2019

23 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25929793%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

23 July 2020

1 reference

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7 March 2020

page(s)

1 reference

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Creative Commons Attribution

7 March 2020

3 references

13 March 2019

23 December 2019

23 July 2020

0 references

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

1 reference

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Emotionally-intense situations can result in rhabdomyolysis in McArdle disease

27 July 2018

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Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

27 July 2018

1 reference

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Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

27 July 2018

1 reference

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From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease.

27 July 2018

1 reference

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Spectrum of metabolic myopathies

27 July 2018

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Rhabdomyolysis: review of the literature

27 July 2018

1 reference

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Multiple phenotypes in phosphoglucomutase 1 deficiency

27 July 2018

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Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

27 July 2018

1 reference

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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

27 July 2018

1 reference

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Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.

27 July 2018

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27 July 2018

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A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

27 July 2018

1 reference

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Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.

27 July 2018

1 reference

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Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama

27 July 2018

1 reference

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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

27 July 2018

1 reference

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Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

27 July 2018

1 reference

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State of the art in muscle lipid diseases

27 July 2018

1 reference

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Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

27 July 2018

1 reference

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McArdle disease: a clinical review

27 July 2018

1 reference

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Salmonella typhi sepsis and rhabdomyolysis with acute renal failure: a rare presentation of a common disease.

27 July 2018

1 reference

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Can inhalation agents be used in the presence of a child with myopathy?

27 July 2018

1 reference

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Rhabdomyolysis: a review of the literature.

27 July 2018

1 reference

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Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

27 July 2018

1 reference

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The syndrome of rhabdomyolysis: complications and treatment

27 July 2018

1 reference

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McArdle disease: what do neurologists need to know?

27 July 2018

1 reference

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Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

27 July 2018

1 reference

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ACE ID genotype affects blood creatine kinase response to eccentric exercise.

27 July 2018

1 reference

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Glycogen storage disease type IX: High variability in clinical phenotype

27 July 2018

1 reference

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CK-MM and ACE genotypes and physiological prediction of the creatine kinase response to exercise.

27 July 2018

1 reference

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27 July 2018

Malignant hyperthermia

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Molecular genetics of McArdle's disease.

27 July 2018

1 reference

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Electron transfer flavoprotein deficiency: functional and molecular aspects

27 July 2018

1 reference

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ACTN3 and MLCK genotype associations with exertional muscle damage

27 July 2018

1 reference

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Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child

27 July 2018

1 reference

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Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr)

27 July 2018

1 reference

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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

27 July 2018

1 reference

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Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes

27 July 2018

1 reference

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Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis

27 July 2018

1 reference

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27 July 2018

1 reference

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Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

27 July 2018

1 reference

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Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

27 July 2018

1 reference

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A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

27 July 2018

1 reference

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Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

27 July 2018

1 reference

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Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria

27 July 2018

1 reference

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Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

27 July 2018

1 reference

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The second wind phenomenon in McArdle's disease

27 July 2018

1 reference

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Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager

27 July 2018

1 reference

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Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

24 September 2018

1 reference

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Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.

24 September 2018

1 reference

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Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis

24 September 2018

1 reference

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

24 September 2018

1 reference

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Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

24 September 2018

1 reference

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Genetic polymorphisms associated with exertional rhabdomyolysis.

24 September 2018

1 reference

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A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

24 September 2018

1 reference

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Myopathic causes of exercise intolerance with rhabdomyolysis

24 September 2018

1 reference

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Dysferlinopathy presenting as rhabdomyolysis and acute renal failure

24 September 2018

1 reference

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Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

24 September 2018

1 reference

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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome.

24 September 2018

1 reference

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24 September 2018

1 reference

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Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations

24 September 2018

1 reference

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Analytic Reviews: Propofol Infusion Syndrome in the ICU

24 September 2018

1 reference

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Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis

24 September 2018

1 reference

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

24 September 2018

1 reference

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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

24 September 2018

1 reference

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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

24 September 2018

1 reference

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CCL2 and CCR2 polymorphisms are associated with markers of exercise-induced skeletal muscle damage

24 September 2018

1 reference

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Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene

24 September 2018

1 reference

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Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation

24 September 2018

1 reference

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Muscle glycogenosis due to phosphoglucomutase 1 deficiency

24 September 2018

1 reference

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Muscle phosphoglycerate mutase deficiency revisited

24 September 2018

1 reference

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Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

24 September 2018

1 reference

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IL6 (-174) and TNFA (-308) promoter polymorphisms are associated with systemic creatine kinase response to eccentric exercise.

24 September 2018

1 reference

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McArdle disease: molecular genetic update

24 September 2018

1 reference

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Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).

24 September 2018

1 reference

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Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

24 September 2018

1 reference

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Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

24 September 2018

1 reference

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Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency

24 September 2018

1 reference

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A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

24 September 2018

1 reference

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Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases

24 September 2018

1 reference

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A nonischemic forearm exercise test for McArdle disease

24 September 2018

1 reference

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

24 September 2018

1 reference

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King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

24 September 2018

1 reference

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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

21 January 2018

1 reference

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Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations

21 January 2018

1 reference

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Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0264-3

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0264-3

Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4522153

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy

14 November 2018

1 reference

12 December 2020

Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation

1 reference

12 December 2020

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

1 reference

12 December 2020

Overrepresentation of the ACTN3 XX genotype in elite canoe and kayak paddlers

1 reference

12 December 2020

Multiple phenotypes in phosphoglucomutase 1 deficiency

1 reference

12 December 2020

Fatal rhabdomyolysis in 2 children with LPIN1 mutations

1 reference

12 December 2020

The syndrome of rhabdomyolysis: Pathophysiology and diagnosis

1 reference

12 December 2020

A diagnostic cycle test for McArdle's disease

1 reference

12 December 2020

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

1 reference

12 December 2020

A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy

1 reference

12 December 2020

A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure

1 reference

12 December 2020

Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene

1 reference

12 December 2020

Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease?

1 reference

12 December 2020

Recurrent rhabdomyolysis and mild acute renal failure associated with acute Brucella infection

1 reference

12 December 2020

Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene

1 reference

12 December 2020

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

1 reference

12 December 2020

IGF-II gene region polymorphisms related to exertional muscle damage

1 reference

12 December 2020

[Anesthesia-induced rhabdomyolysis in a patient with Fukuyama-type congenital muscular dystrophy]

1 reference

12 December 2020

A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia

1 reference

12 December 2020

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

1 reference

12 December 2020

Episodes of exercise-induced dark urine and myalgia in LGMD 2I

1 reference

12 December 2020

Myopathy in Marinesco-Sjogren syndrome

1 reference

12 December 2020

10.1186/S13023-015-0264-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25929793%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25929793%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PubMed publication ID

25929793

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25929793%20AND%20SRC:MED&resulttype=core&format=json