A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity (Q66981316)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

title

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

1 reference

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1 September 2019

main subject

mitochondrial myopathy

1 reference

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

23 June 2023

author

John A. Morgan-Hughes

1

object named as

J. A. Morgan-Hughes

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23 June 2023

author name string

P. Darveniza

2

1 reference

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23 June 2023

D. N. Landon

3

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23 June 2023

J. M. Land

4

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23 June 2023

J. B. Clark

5

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23 June 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=521828

23 June 2023

publication date

1 September 1979

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full work available at URL

1 September 2019

https://api.elsevier.com/content/article/PII:0022510X79900716?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

https://api.elsevier.com/content/article/PII:0022510X79900716?httpAccept=text/plain

23 June 2023

1 reference

https://api.crossref.org/works/10.1016/0022-510X(79)90071-6

Journal of the Neurological Sciences

23 June 2023

published in

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1 September 2019

volume

43

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1 September 2019

issue

1

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1 September 2019

page(s)

27-46

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1 September 2019

1

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A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase

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2

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Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

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An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis

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Further studies of mitochondrial and lipid storage myopathies

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New myopathy with mitochondrial enzyme hyperactivity. Histochemical demonstration

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Fatal cases of lipid storage myopathy with carnitine deficiency

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Carnitine-palmityl-transferase deficiency

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Menkes' kinky-hair syndrome

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Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case

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Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria.

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Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

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Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case

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Trichopoliodystrophy. I. Report of a case and biochemical studies

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19

1 reference

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Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome

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20

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A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

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21

1 reference

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Myopathy with abnormal structure and function of muscle mitochondria

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22

1 reference

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23 June 2023

Mitochondrial myopathies

23

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

23 June 2023

24

1 reference

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Protein measurement with the Folin phenol reagent

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25

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A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

23 June 2023

26

1 reference

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Biochemical studies of skeletal muscle mitochondria. I. Microanalysis of cytochrome content, oxidative and phosphorylative activities of mammalian skeletal muscle mitochondria

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Letter: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

23 June 2023

28

1 reference

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Atypical muscle mitochondria in oculoskeletal myopathy

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29

1 reference

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

23 June 2023

30

1 reference

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Myopathy with atypical mitochondria in type I skeletal muscle fibers. A histochemical and ultrastructural study

23 June 2023

33

1 reference

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Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia

23 June 2023

34

1 reference

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Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy

23 June 2023

36

1 reference

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Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

23 June 2023

37

1 reference

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Mitochondrial ultrastructure with crystalloid inclusions in an unusual type of human myopathy

23 June 2023

38

1 reference

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Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply

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39

1 reference

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Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

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Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

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42

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Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy

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43

1 reference

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A new mitochondrial myopathy in a patient with salt craving.

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Myopathy with mitochondrial inclusion bodies: histological and metabolic studies

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46

1 reference

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Chronic lactic acidosis in an adult. A new syndrome associated with an altered redox state of certain NAD-NADH coupled reactions

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Chronic lactic acidosis in association with myopathy

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48

1 reference

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Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

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49

1 reference

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Skeletal muscle disease with abnormal mitochondria

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50

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Menkes's steely hair syndrome

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Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

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52

1 reference

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Effect of temperature on the spectral properties of some ferrocytochromes

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The cytochrome system of sea urchin sperm

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Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings

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23 June 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:521828%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

1 reference