Mitochondrial myopathies. Clinical, morphological and biochemical aspects (Q40142977)

17 September 2017

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title

Mitochondrial myopathies. Clinical, morphological and biochemical aspects (English)

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17 September 2017

R C Sengers

1

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17 September 2017

A M Stadhouders

series ordinal

2

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17 September 2017

J M Trijbels

series ordinal

3

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17 September 2017

publication date

1 February 1984

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European Journal of Pediatrics

17 September 2017

published in

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17 September 2017

volume

141

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17 September 2017

issue

4

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17 September 2017

page(s)

192-207

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A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission

17 September 2017

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Disorders of pyruvate metabolism

21 January 2018

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Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria.

21 January 2018

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Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia

21 January 2018

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Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy

21 January 2018

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Acetazolamide in the Treatment of Pyruvate Dysmetabolism Syndromes

21 January 2018

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21 January 2018

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21 January 2018

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Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

21 January 2018

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Severe hypermetabolism with primary abnormality of skeletal muscle mitochondria

21 January 2018

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Lactic acidemia, mitochondrial myopathy, and basal ganglia calcification

21 January 2018

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Mitochondrial myopathy with cardiomyopathy, lactic acidosis and response to prednisone and thiamine

21 January 2018

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Oculocraniosomatic neuromuscular disease with "ragged-red" fibers

21 January 2018

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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

21 January 2018

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Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply

21 January 2018

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Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

21 January 2018

1 reference

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A new mitochondrial myopathy in a patient with salt craving.

21 January 2018

1 reference

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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

21 January 2018

1 reference

12 December 2020

Enzymic Activities of Human Skeletal Muscle Mitochondria: A Tool in Clinical Metabolic Research

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial changes of the skeletal muscle in the peroneal muscular atrophy (Charcot-Marie-Tooth disease). Histological and electron microscopic studies (author's transl)

1 reference

12 December 2020

Percutaneous needle biopsy of skeletal muscle in childhood

1 reference

12 December 2020

[Spinocerebellar degeneration, optic atrophy, epilepsy, myoclonus and mitochondrial myopathy: a case report (author's transl)]

1 reference

12 December 2020

Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy

1 reference

12 December 2020

An electron-microscope study of muscle degeneration and vascular changes in polymyositis

1 reference

12 December 2020

Cardiomyopathy and Short Stature Associated with Mitochondrial and/or Lipid Storage Myopathy of Skeletal Muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Biochemical studies in the liver and muscle of patients with Zellweger syndrome.

1 reference

12 December 2020

Morphologic and metabolic studies in a case of oculo-cranio-somatic neuromuscular disease

1 reference

12 December 2020

Carnitine metabolism and deficiency syndromes

1 reference

12 December 2020

Idiopathic cardiomyopathy and skeletal muscle abnormality

1 reference

12 December 2020

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

1 reference

12 December 2020

Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Orbicularis oculi muscle in chronic progressive external ophthalmoplegia

1 reference

12 December 2020

Disorders of lipid metabolism in muscle.

1 reference

12 December 2020

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

1 reference

12 December 2020

The early effects of ischemia upon skeletal muscle mitochondria

1 reference

12 December 2020

A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency

1 reference

12 December 2020

The myocardiopathies of hereditary neuro-muscular diseases

1 reference

12 December 2020

Skeletal muscle in idiopathic cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

On the existence of two populations of mitochondria in a single organ. Respiration, calcium transport and enzyme activities

1 reference

12 December 2020

Mitochondrial functions in chronic spinal muscular atrophy

1 reference

12 December 2020

Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

1 reference

12 December 2020

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy

1 reference

12 December 2020

Electron microscopic and enzyme histochemical studies of cerebellum, ocular and skeletal muscles in chronic progressive ophthalmoplegia with cerebellar ataxia

1 reference

12 December 2020

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

12 December 2020

An X-linked recessive cardiomyopathy with abnormal mitochondria

1 reference

12 December 2020

Mitochondrial inheritance in a mitochondrially mediated disease

1 reference

12 December 2020

The ultrastructure of the normal human skeletal muscle. A morphometric analysis on untrained men, women and well-trained orienteers.

1 reference

12 December 2020

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

1 reference

12 December 2020

Familial mitochondrial myopathy with cataract

1 reference

12 December 2020

Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver

1 reference

12 December 2020

Neuropathy and mitochondrial myopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency

1 reference

12 December 2020

Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings

1 reference

12 December 2020

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

1 reference

12 December 2020

Pyruvate oxidation in rat and human skeletal muscle mitochondria

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12 December 2020

Treatment of lactic acidosis with dichloroacetate

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12 December 2020

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

1 reference

12 December 2020

Chronic lactic acidosis in association with myopathy

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12 December 2020

Citrate treatment in a patient with pyruvate decarboxylase deficiency

1 reference

12 December 2020

Ophthalmoplegia-plus, a real nosological entity

1 reference

12 December 2020

Mitochondrial functions in five cases of human neuromuscular disorders

1 reference

12 December 2020

Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism

1 reference

12 December 2020

Skeletal muscle disease with abnormal mitochondria

1 reference

12 December 2020

Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency

1 reference

12 December 2020

Progressive external ophthalmoplegia. Evidence for a generalised mitochondrial disease with a defect in pyruvate metabolism

1 reference

12 December 2020

Cytochrome-c-oxidase deficiency in a floppy infant

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?

1 reference

12 December 2020

Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients

1 reference

12 December 2020

Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial myopathy

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12 December 2020

Experimental mitochondrial myopathy produced by in vivo uncoupling of oxidative phosphorylation

1 reference

12 December 2020

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

1 reference

12 December 2020

MYOPATHIC DISORDER ASSOCIATED WITH MITOCHONDRIAL ABNORMALITIES, HYPERGLYCÆMIA, AND HYPERKETONÆMIA

1 reference

12 December 2020

Myopathy with abnormal structure and function of muscle mitochondria

1 reference

12 December 2020

Control of mitochondrial respiration.

1 reference

12 December 2020

Ragged-red fibers. A biochemical and morphological study

1 reference

12 December 2020

"Megaconial" mitochondria observed in a case of chronic polymyositis

1 reference

12 December 2020

Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts

1 reference

12 December 2020

1 reference

12 December 2020

Progressive dystrophy of the external ocular muscles (ocular myopathy).

1 reference

12 December 2020

Childhood mitochondrial myopathy with ophthalmoplegia

1 reference

12 December 2020

Demyelination and disturbed metabolism of pyruvate: a case report

1 reference

12 December 2020

Familial Myopathy With Abnormal Muscle Mitochondria

1 reference

12 December 2020

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

1 reference

12 December 2020

The effect of exogenous cytochrome c on pyruvate oxidation by rat skeletal muscle mitochondria isolated in sucrose or KCl medium

1 reference

12 December 2020

Mitochondrial inheritance and disease

1 reference

12 December 2020

Mitochondrial cardiomyopathy with involvement of skeletal muscles

1 reference

12 December 2020

Mitochondrial myopathy of cerebro-hepato-renal (Zellweger) syndrome

1 reference

12 December 2020

Muscle biopsy in progressive external ophthalmoplegia (author's transl)

1 reference

12 December 2020

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain

1 reference

12 December 2020

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

1 reference

12 December 2020

Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency

1 reference

12 December 2020

The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00572761

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17 September 2017

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