(Q35246734)

7 August 2017

Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene (English)

1 reference

glycerol kinase deficiency

7 August 2017

1 reference

Darras BT

1

1 reference

PubMed ID

2840818

7 August 2017

Francke U

series ordinal

2

1 reference

PubMed ID

2840818

7 August 2017

language of work or name

English

0 references

publication date

1 August 1988

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

43

1 reference

7 August 2017

126-130

1 reference

7 August 2017

2

1 reference

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715358

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715358

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715358

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715358

Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715358

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

27 July 2018

1 reference

12 December 2020

Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome

1 reference

12 December 2020

Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy

1 reference

12 December 2020

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA

1 reference

12 December 2020

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency

1 reference

12 December 2020

Identifiers

PMCID

1715358

1 reference

7 August 2017

1 reference

PubMed ID

2840818