Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation

Antonella Spinazzola; Franco Carrara; Marina Mora; Massimo Zeviani

doi:10.1016/j.nmd.2004.09.002

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation

Antonella Spinazzola, Franco Carrara, Marina Mora, Massimo Zeviani

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

Abstract

We describe a second patient carrying the 5698G→A transition in the mitochondrial DNA gene encoding tRNA ^Asn, who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G→A with COX-depleted fibres. These results indicate that the 5698G→A is pathogenic.

Original language	English
Pages (from-to)	815-817
Number of pages	3
Journal	Neuromuscular Disorders
Volume	14
Issue number	12
DOIs	https://doi.org/10.1016/j.nmd.2004.09.002
Publication status	Published - Dec 2004

Keywords

Chronic progressive external ophthalmoplegia
Mitochondrial myopathy
mtDNA
Point mutation
tRNA

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

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title = "Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation",

abstract = "We describe a second patient carrying the 5698G→A transition in the mitochondrial DNA gene encoding tRNA Asn, who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G→A with COX-depleted fibres. These results indicate that the 5698G→A is pathogenic.",

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AU - Carrara, Franco

AU - Mora, Marina

AU - Zeviani, Massimo

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AB - We describe a second patient carrying the 5698G→A transition in the mitochondrial DNA gene encoding tRNA Asn, who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G→A with COX-depleted fibres. These results indicate that the 5698G→A is pathogenic.

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KW - Mitochondrial myopathy

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KW - Point mutation

KW - tRNA

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