(Q35644306)

English

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

scientific article published on May 1995

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

congenital disorder

0 references

1 reference

based on heuristic

inferred from title

myopathy and diabetes mellitus

1 reference

based on heuristic

inferred from title

Mary G. Sweeney

3

object named as

Sweeney MG

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

1

object named as

Hanna MG

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

John A. Morgan-Hughes

6

object named as

Morgan-Hughes JA

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

author name string

Nelson I

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Cooper JM

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Watkins PJ

5

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Harding AE

7

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

language of work or name

0 references

publication date

1 May 1995

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

56

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

1026-1033

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

A new point mutation associated with mitochondrial encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Isolation and characterization of human muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Homeostasis model assessment: insulin resistance and ?-cell function from fasting plasma glucose and insulin concentrations in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

The clinical features of mitochondrial myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Brain, skeletal muscle and platelet homogenate mitochondrial function in Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

A quantitative technique for growing human adult skeletal muscle in culture starting from mononucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Biogenesis of mitochondrial proteins in HeLa cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

27 July 2018

Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801468

25 September 2018

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial disorder associated with newborn cardiopulmonary arrest

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitochondrial tRNA anticodon swap associated with a muscle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35644306&oldid=1936290765"