A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance (Q50355104)

6 March 2018

title

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance (English)

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6 March 2018

author

Maria Lucia Valentino

4

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6 March 2018

Alessandra Maresca

6

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6 March 2018

Leonardo Caporali

7

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Rocco Liguori

9

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Giovanni Rizzo

12

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Raffaele Lodi

14

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Andrea Martinuzzi

15

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Francesca Gandini

19

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Maria Pala

20

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Alessandro Achilli

21

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6 March 2018

Chiara La Morgia

Chiara La Morgia

8

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Anna Olivieri

Anna Olivieri

22

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Luisa Iommarini

Luisa Iommarini

5

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Caterina Tonon

Caterina Tonon

13

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Michela Rugolo

Michela Rugolo

17

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Valerio Carelli

Valerio Carelli

24

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Valeria Carossa

1

Valeria Carossa

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Antonio Torroni

23

Antonio Torroni

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6 March 2018

Anna Ghelli

2

Anna Ghelli

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6 March 2018

Piero Barboni

10

Piero Barboni

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Vera De Nardo

16

Vera De Nardo

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6 March 2018

author name string

Concetta Valentina Tropeano

3

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6 March 2018

Michele Carbonelli

11

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6 March 2018

Luca Ferretti

18

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6 March 2018

publication date

28 June 2014

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6 March 2018

published in

Human Mutation

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6 March 2018

volume

35

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6 March 2018

issue

8

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6 March 2018

page(s)

954-958

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6 March 2018

Respiratory complex III is required to maintain complex I in mammalian mitochondria

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

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21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22596

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https://api.crossref.org/works/10.1002%2FHUMU.22596

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21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22596

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22596

Cells lacking Rieske iron-sulfur protein have a reactive oxygen species-associated decrease in respiratory complexes I and IV.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22596

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

Supercomplex assembly determines electron flux in the mitochondrial electron transport chain

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22596

Significance of respirasomes for the assembly/stability of human respiratory chain complex I.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22596

Do the four clades of the mtDNA haplogroup L2 evolve at different rates?

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22596

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22596

mtDNA tree Build 17 (18 Feb 2016)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

7 January 2021

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

7 January 2021

An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

7 January 2021

Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22596

7 January 2021

Identifiers

DOI

10.1002/HUMU.22596

1 reference

6 March 2018

1 reference

6 March 2018