The investigation and management of metabolic myopathies (Q41330451)

29 September 2017

title

The investigation and management of metabolic myopathies (English)

1 reference

29 September 2017

Simon Edward Olpin

1 reference

29 September 2017

Elaine Murphy

1 reference

29 September 2017

Richard James Kirk

1 reference

29 September 2017

Robert William Taylor

1 reference

29 September 2017

Rosaline Quinlivan

1 reference

29 September 2017

language of work or name

English

0 references

publication date

15 April 2015

1 reference

Journal of Clinical Pathology

29 September 2017

published in

1 reference

29 September 2017

1 reference

29 September 2017

1 reference

29 September 2017

page(s)

410-417

1 reference

Metabolic myopathies: update 2009.

29 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

A diagnostic algorithm for metabolic myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Glycogen storage myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Rhabdomyolysis: review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Stepwise approach to myopathy in systemic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Myopathic causes of exercise intolerance with rhabdomyolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Laboratory diagnosis of metabolic myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Bioenergetic provision of energy for muscular activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Danon disease: case report and detection of new mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Glycogen storage disease type III diagnosis and management guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

The diagnosis of mitochondrial muscle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

An overview of neurological and neuromuscular signs in mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Exercise intolerance due to cytochrome b mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Phenotypic variability in a Spanish family with a Caveolin-3 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

A nonischemic forearm exercise test for McArdle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Phosphofructokinase deficiency; past, present and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Therapeutic advances in the management of Pompe disease and other metabolic myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Mitochondrial Trifunctional Protein Defects: Clinical Implications and Therapeutic Approaches

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJCLINPATH-2014-202808

10.1136/JCLINPATH-2014-202808

21 January 2018

Identifiers

DOI

1 reference

29 September 2017

1 reference