Autosomal dominant Kearns-Sayre syndrome. (Q55063140)

16 June 2018

title

Autosomal dominant Kearns-Sayre syndrome. (English)

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16 June 2018

author name string

Leveille AS

series ordinal

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16 June 2018

Newell FW

series ordinal

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16 June 2018

publication date

1 February 1980

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16 June 2018

published in

Ophthalmology

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16 June 2018

volume

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16 June 2018

issue

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16 June 2018

page(s)

99-108

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16 June 2018

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

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7 January 2021

Oculocraniosomatic neuromuscular disease with "ragged-red" fibers

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Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0161-6420%2880%2935262-7

7 January 2021

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2880%2935262-7

7 January 2021

Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue

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https://api.crossref.org/works/10.1016%2FS0161-6420%2880%2935262-7

7 January 2021

Skeletal muscle disease with abnormal mitochondria

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7 January 2021

Familial progressive external ophthalmoplegia with abnormal muscle mitochondria

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome)

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7 January 2021

Myopathy with mitochondrial inclusion bodies: histological and metabolic studies

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7 January 2021

Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria

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7 January 2021

10.1016/S0161-6420(80)35262-7

Identifiers

DOI

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16 June 2018

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16 June 2018