Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder (Q28280475)

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English	Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder	scientific article

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scholarly article

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Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder (English)

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Alfried Kohlschütter

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ORCID Public Data File 2021

author name string

A Bardosi

1

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W Creutzfeldt

2

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S DiMauro

3

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K Felgenhauer

4

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R L Friede

5

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H H Goebel

6

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A Kohlschütter

7

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G Mayer

8

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G Rahlf

9

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S Servidei

10

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language of work or name

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publication date

1987

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Acta Neuropathologica

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74

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3

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248-58

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Mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A study of a family with inherited disease of cardiac and skeletal muscle. Part II. Skeletal muscle morphology and mitochondrial oxidative phosphorylation

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https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oculogastrointestinal muscular dystrophy

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https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome C oxidase deficiency in two siblings with leigh encephalomyelopathy

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https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

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Late-onset oculogastrointestinal muscular dystrophy

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https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

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Myoclonus, cerebellar disorder, neuropathy, mitochondria1 myopathy, and ACTH deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

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Neuromyopathy and vitamin E deficiency in man

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https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

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Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Menkes' kinky hair disease: further definition of the defect in copper transport.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

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Mitochondrial myopathies. Clinical, morphological and biochemical aspects

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https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

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Leukoencephalopathy in oculocraniosomatic neuromuscular disease with ragged-red fibers. Mitochondrial abnormalities demonstrated by computerized tomography

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathy: fluctuating symptoms and CT.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternally inherited mitochondrial myopathy and myoclonic epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

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Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome-c-oxidase deficiency in a floppy infant

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies of the electron-transfer system. LXIV. Role of phospholipid in cytochrome oxidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited ophthalmoplegia with intestinal pseudo-obstruction

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystalline aggregates of protein-glycogen complexes (alias 'virus-like particles') in skeletal muscle: report of a case and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/2823522

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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