Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement (Q48462967)

11 February 2018

title

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement (English)

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11 February 2018

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J Betts

1

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E Jaros

2

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R H Perry

3

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A M Schaefer

4

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R W Taylor

5

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Z Abdel-All

6

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R N Lightowlers

7

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D M Turnbull

8

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publication date

1 August 2006

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Neuropathology and Applied Neurobiology

published in

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volume

32

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issue

4

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page(s)

359-373

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

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Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology.

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Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

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Cerebral lactic acidosis correlates with neurological impairment in MELAS.

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Reversible brain dysfunction in MELAS: MEG, and (1)H MRS analysis

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21 January 2018

Identifiers

DOI

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11 February 2018

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11 February 2018