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 Citations (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 (

Original language	English
Journal	Neuromuscular disorders : NMD
Volume	24
Issue number	2
Pages (from-to)	162-6
Number of pages	5
ISSN	0960-8966
DOIs	https://doi.org/10.1016/j.nmd.2013.08.004
Publication status	Published - Feb 2014

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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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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

SN - 0960-8966

VL - 24

SP - 162

EP - 166

JO - Neuromuscular disorders : NMD

JF - Neuromuscular disorders : NMD

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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