(Q24595989)

1

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G Nogales-Gadea

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D Cassandrini

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J Arenas

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C Bruno

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

5

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language of work or name

English

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publication date

July 2007

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published in

Acta Myologica

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volume

26

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issue

1

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page(s)

53-7

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Novel mutation in the PYGM gene resulting in McArdle disease.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Myophosphorylase deficiency (glycogenosis type V; McArdle disease).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Three new mutations in patients with myophosphorylase deficiency (McArdle disease)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Phosphorylase: a biological transducer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Standardizing mutation nomenclature: why bother?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Phenotype modulators in myophosphorylase deficiency

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2949323

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

28 November 2018

1 reference

12 December 2020

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

1 reference

12 December 2020

McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene

1 reference

12 December 2020

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease

1 reference

12 December 2020

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

1 reference

12 December 2020

Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)

1 reference

12 December 2020

Diagnosis of McArdle's disease by molecular genetic analysis of blood

1 reference

12 December 2020

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

1 reference

12 December 2020

Mutation analysis in myophosphorylase deficiency (McArdle's disease)

1 reference

12 December 2020

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

1 reference

12 December 2020

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

1 reference

12 December 2020

Molecular characterization of McArdle's disease in two large Finnish families

1 reference

12 December 2020

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

1 reference

12 December 2020

A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease

1 reference

12 December 2020

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease

1 reference

12 December 2020

A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease

1 reference

12 December 2020

A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

1 reference

12 December 2020

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

1 reference

12 December 2020

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

1 reference

12 December 2020

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study

1 reference

12 December 2020

Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease

1 reference

12 December 2020