A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy

Tina Dysgaard Jeppesen; Morten Duno; Lotte Risom; Flemming Wibrand; Jabin Rafiq; Thomas Krag; Johannes Jakobsen; Henning Andersen; John Vissing

doi:10.1016/j.nmd.2013.08.004

A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy

Tina Dysgaard Jeppesen, Morten Duno, Lotte Risom, Flemming Wibrand, Jabin Rafiq, Thomas Krag, Johannes Jakobsen, Henning Andersen, John Vissing

13 Citationer (Scopus)

Abstract

Most patients with mutations in the tRNA(lys) gene (MTTK) present with symptoms from the central nervous system (CNS). We describe a 41-year-old woman with pure myopathy associated with a novel de novo mtDNA mutation, mt.8340G>A, which was heteroplasmic in muscle (53%), blood, urine and mouth epithelial cells (

Originalsprog	Engelsk
Tidsskrift	Neuromuscular disorders : NMD
Vol/bind	24
Udgave nummer	2
Sider (fra-til)	162-6
Antal sider	5
ISSN	0960-8966
DOI	https://doi.org/10.1016/j.nmd.2013.08.004
Status	Udgivet - feb. 2014

Adgang til dokumentet

10.1016/j.nmd.2013.08.004

Citationsformater

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title = "A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy",

abstract = "Most patients with mutations in the tRNA(lys) gene (MTTK) present with symptoms from the central nervous system (CNS). We describe a 41-year-old woman with pure myopathy associated with a novel de novo mtDNA mutation, mt.8340G>A, which was heteroplasmic in muscle (53%), blood, urine and mouth epithelial cells (",

author = "Jeppesen, {Tina Dysgaard} and Morten Duno and Lotte Risom and Flemming Wibrand and Jabin Rafiq and Thomas Krag and Johannes Jakobsen and Henning Andersen and John Vissing",

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volume = "24",

pages = "162--6",

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T1 - A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy

AU - Jeppesen, Tina Dysgaard

AU - Duno, Morten

AU - Risom, Lotte

AU - Wibrand, Flemming

AU - Rafiq, Jabin

AU - Krag, Thomas

AU - Jakobsen, Johannes

AU - Andersen, Henning

AU - Vissing, John

PY - 2014/2

Y1 - 2014/2

N2 - Most patients with mutations in the tRNA(lys) gene (MTTK) present with symptoms from the central nervous system (CNS). We describe a 41-year-old woman with pure myopathy associated with a novel de novo mtDNA mutation, mt.8340G>A, which was heteroplasmic in muscle (53%), blood, urine and mouth epithelial cells (

AB - Most patients with mutations in the tRNA(lys) gene (MTTK) present with symptoms from the central nervous system (CNS). We describe a 41-year-old woman with pure myopathy associated with a novel de novo mtDNA mutation, mt.8340G>A, which was heteroplasmic in muscle (53%), blood, urine and mouth epithelial cells (

U2 - 10.1016/j.nmd.2013.08.004

DO - 10.1016/j.nmd.2013.08.004

M3 - Journal article

C2 - 24161205

VL - 24

SP - 162

EP - 166

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 2

ER -

A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy

Abstract

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