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

Access to Document

10.1016/j.nmd.2004.09.002

Cite this

@article{35560f0300604a9c800e987941898ae1,

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.",

keywords = "Chronic progressive external ophthalmoplegia, Mitochondrial myopathy, mtDNA, Point mutation, tRNA",

author = "Antonella Spinazzola and Franco Carrara and Marina Mora and Massimo Zeviani",

year = "2004",

month = dec,

doi = "10.1016/j.nmd.2004.09.002",

language = "English",

volume = "14",

pages = "815--817",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd",

number = "12",

}

TY - JOUR

T1 - Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation

AU - Spinazzola, Antonella

AU - Carrara, Franco

AU - Mora, Marina

AU - Zeviani, Massimo

PY - 2004/12

Y1 - 2004/12

N2 - 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.

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.

KW - Chronic progressive external ophthalmoplegia

KW - Mitochondrial myopathy

KW - mtDNA

KW - Point mutation

KW - tRNA

UR - http://www.scopus.com/inward/record.url?scp=9644291803&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=9644291803&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2004.09.002

DO - 10.1016/j.nmd.2004.09.002

M3 - Article

C2 - 15564038

AN - SCOPUS:9644291803

VL - 14

SP - 815

EP - 817

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 12

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this