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

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

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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

Cite this

Spinazzola, A., Carrara, F., Mora, M., & Zeviani, M. (2004). Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation. Neuromuscular Disorders, 14(12), 815-817. https://doi.org/10.1016/j.nmd.2004.09.002

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Access to Document

10.1016/j.nmd.2004.09.002