A novel de novo mutation of the mitochondrial tRNAlys 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 tRNAlys 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

12 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 (<7%). No other family members, including her mother, carried the mutation. She presented with exercise intolerance from age 9, and since age 20 she experienced ptosis and reduced ocular motility. A muscle biopsy revealed ragged red fibres (10%), no COX negative fibres, and many fibres with central nuclei (30%), indicating ongoing damage and repair. The present case expands the mutational and phenotypic spectrum of diseases associated with mutations in MTTK.

Originalsprog	Engelsk
Tidsskrift	Neuromuscular Disorders
Vol/bind	24
Udgave nummer	2
Sider (fra-til)	162-166
Antal sider	5
ISSN	0960-8966
DOI	https://doi.org/10.1016/j.nmd.2013.08.004
Status	Udgivet - feb. 2014

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10.1016/j.nmd.2013.08.004

Citationsformater

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title = "A novel de novo mutation of the mitochondrial tRNAlys 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 (<7%). No other family members, including her mother, carried the mutation. She presented with exercise intolerance from age 9, and since age 20 she experienced ptosis and reduced ocular motility. A muscle biopsy revealed ragged red fibres (10%), no COX negative fibres, and many fibres with central nuclei (30%), indicating ongoing damage and repair. The present case expands the mutational and phenotypic spectrum of diseases associated with mutations in MTTK.",

keywords = "Adult, Base Sequence, DNA Contamination, DNA, Mitochondrial, Female, Humans, Molecular Sequence Data, Muscle, Skeletal, Muscular Diseases, Pedigree, Point Mutation, RNA, Transfer, Lys",

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",

year = "2014",

month = feb,

doi = "10.1016/j.nmd.2013.08.004",

language = "English",

volume = "24",

pages = "162--166",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier",

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TY - JOUR

T1 - A novel de novo mutation of the mitochondrial tRNAlys 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 (<7%). No other family members, including her mother, carried the mutation. She presented with exercise intolerance from age 9, and since age 20 she experienced ptosis and reduced ocular motility. A muscle biopsy revealed ragged red fibres (10%), no COX negative fibres, and many fibres with central nuclei (30%), indicating ongoing damage and repair. The present case expands the mutational and phenotypic spectrum of diseases associated with mutations in MTTK.

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 (<7%). No other family members, including her mother, carried the mutation. She presented with exercise intolerance from age 9, and since age 20 she experienced ptosis and reduced ocular motility. A muscle biopsy revealed ragged red fibres (10%), no COX negative fibres, and many fibres with central nuclei (30%), indicating ongoing damage and repair. The present case expands the mutational and phenotypic spectrum of diseases associated with mutations in MTTK.

KW - Adult

KW - Base Sequence

KW - DNA Contamination

KW - DNA, Mitochondrial

KW - Female

KW - Humans

KW - Molecular Sequence Data

KW - Muscle, Skeletal

KW - Muscular Diseases

KW - Pedigree

KW - Point Mutation

KW - RNA, Transfer, Lys

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

JF - Neuromuscular Disorders

IS - 2

ER -

A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy

Abstract

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