Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

Tina Dysgaard Jeppesen; M. Schwartz; E. Colding-Jorgensen; T. Krag; S. Hauerslev; J. Vissing

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

Tina Dysgaard Jeppesen, M. Schwartz, E. Colding-Jorgensen, T. Krag, S. Hauerslev, J. Vissing

Institut for Klinisk Medicin

13 Citationer (Scopus)

Abstract

The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C > A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness, sensory neuropathy, elevated resting plasma lactate, glucose intolerance and impaired VO2max while her sons only had mild ptosis. In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons. (C) 2007 Elsevier B.V. All rights reserved
Udgivelsesdato: 2008/4

Originalsprog	Engelsk
Tidsskrift	Neuromuscular Disorders
Vol/bind	18
Udgave nummer	4
Sider (fra-til)	306-309
Antal sider	3
ISSN	0960-8966
Status	Udgivet - 2008

Citationsformater

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title = "Phenotype and clinical course in a family with a new de novo Twinkle gene mutation",

abstract = "The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C > A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness, sensory neuropathy, elevated resting plasma lactate, glucose intolerance and impaired VO2max while her sons only had mild ptosis. In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons. (C) 2007 Elsevier B.V. All rights reserved Udgivelsesdato: 2008/4",

author = "Jeppesen, {Tina Dysgaard} and M. Schwartz and E. Colding-Jorgensen and T. Krag and S. Hauerslev and J. Vissing",

note = "Times Cited: 0ArticleEnglishJeppesen, T. DUniv Copenhagen, Dept Neurol, Neuromuscular Res Unit, Rigshosp,Sect 7611, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkCited References Count: 10304PSPERGAMON-ELSEVIER SCIENCE LTDTHE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLANDOXFORD",

year = "2008",

language = "English",

volume = "18",

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journal = "Journal of Neuromuscular Diseases",

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TY - JOUR

T1 - Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

AU - Jeppesen, Tina Dysgaard

AU - Schwartz, M.

AU - Colding-Jorgensen, E.

AU - Krag, T.

AU - Hauerslev, S.

AU - Vissing, J.

N1 - Times Cited: 0ArticleEnglishJeppesen, T. DUniv Copenhagen, Dept Neurol, Neuromuscular Res Unit, Rigshosp,Sect 7611, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkCited References Count: 10304PSPERGAMON-ELSEVIER SCIENCE LTDTHE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLANDOXFORD

PY - 2008

Y1 - 2008

N2 - The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C > A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness, sensory neuropathy, elevated resting plasma lactate, glucose intolerance and impaired VO2max while her sons only had mild ptosis. In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons. (C) 2007 Elsevier B.V. All rights reserved Udgivelsesdato: 2008/4

AB - The Twinkle gene product is important for mtDNA replication. Only a few reports have investigated the clinically effect of mutations in this gene. We describe a new de novo mutation (1110C > A) in the PEO1 gene in a mother and her two sons. The mother had progressive ophthalmoplegia, limb weakness, sensory neuropathy, elevated resting plasma lactate, glucose intolerance and impaired VO2max while her sons only had mild ptosis. In accordance with the clinical presentation, abnormal morphological findings in muscle and multiple deletions and depletion of mtDNA in muscle were more pronounced in the proband than in her sons. (C) 2007 Elsevier B.V. All rights reserved Udgivelsesdato: 2008/4

M3 - Journal article

SN - 0960-8966

VL - 18

SP - 306

EP - 309

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

IS - 4

ER -