(Q48086669)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Santorelli FM

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Shanske S

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Whitley CB

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Smith SA

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

DiMauro S

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

publication date

1 January 1994

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28 October 2019

1 reference

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28 October 2019

volume

1 reference

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28 October 2019

issue

1 reference

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28 October 2019

page(s)

37-43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

28 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Compilation of tRNA sequences and sequences of tRNA genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Mitochondrial myopathy and cardiomyopathy in siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030107

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7906985%20AND%20SRC:MED&resulttype=core&format=json