(Q42547278)

2 November 2017

title

Biochemical and genetic studies in a family with mitochondrial myopathy (English)

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2 November 2017

Heiman-Patterson TD

1

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2 November 2017

Argov Z

2

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2 November 2017

Chavin JM

3

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2 November 2017

Kalman B

4

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2 November 2017

Alder H

5

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2 November 2017

DiMauro S

6

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2 November 2017

Bank W

7

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2 November 2017

Tahmoush AJ

8

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2 November 2017

publication date

1 October 1997

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2 November 2017

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2 November 2017

volume

20

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2 November 2017

issue

10

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2 November 2017

page(s)

1219-1224

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Sequence and organization of the human mitochondrial genome

2 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Dinucleotide repeat in the human mitochondrial D-loop

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Molecular basis of mitochondrial DNA disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Bioenergetic heterogeneity of human mitochondrial myopathies: phosphorus magnetic resonance spectroscopy study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Treatment of complex I deficiency with riboflavin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Decreased expression of ubiquinol-cytochrome c reductase subunits in patients exhibiting mitochondrial myopathy with progressive exercise intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Characterization of the mitochondrial DNA in patients with multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Mitochondrial myopathy with a defect of mitochondrial-protein transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

Tissue specific defect of complex I of the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199710%2920%3A10%3C1219%3A%3AAID-MUS2%3E3.0.CO%3B2-F

10.1002/(SICI)1097-4598(199710)20:10<1219::AID-MUS2>3.0.CO;2-F

21 January 2018

Identifiers

DOI

1 reference

2 November 2017

1 reference