A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance

J Vissing; M B Salamon; P Arlien-Søborg; S Nørby; P Manta; S DiMauro; H Schmalbruch

doi:10.1212/wnl.50.6.1875

A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance

J Vissing, M B Salamon, P Arlien-Søborg, S Nørby, P Manta, S DiMauro, H Schmalbruch

Department of Neurology

Abstract

A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNA(Met) gene presented with growth retardation, muscle weakness, severe exercise intolerance, and lactic acidosis. Muscle biopsy showed unusually severe dystrophic features. The mutation was not present in maternal relatives or 25 healthy subjects. Single-fiber PCR-RFLP analysis of mtDNA showed higher proportion of the mutation in COX-negative than in COX-positive muscle fibers.

Original language	English
Journal	Neurology
Volume	50
Issue number	6
Pages (from-to)	1875-8
Number of pages	4
ISSN	0028-3878
DOIs	https://doi.org/10.1212/wnl.50.6.1875
Publication status	Published - Jun 1998

Keywords

Adult
Base Sequence
Cardiovascular System/physiopathology
DNA, Mitochondrial/genetics
Exercise Tolerance/physiology
Female
Humans
Molecular Sequence Data
Molecular Structure
Muscles/pathology
Muscular Dystrophies/genetics
Mutation/genetics
Nervous System/physiopathology
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
RNA/genetics
RNA, Mitochondrial
RNA, Transfer, Met/genetics

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10.1212/wnl.50.6.1875

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title = "A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance",

abstract = "A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNA(Met) gene presented with growth retardation, muscle weakness, severe exercise intolerance, and lactic acidosis. Muscle biopsy showed unusually severe dystrophic features. The mutation was not present in maternal relatives or 25 healthy subjects. Single-fiber PCR-RFLP analysis of mtDNA showed higher proportion of the mutation in COX-negative than in COX-positive muscle fibers.",

keywords = "Adult, Base Sequence, Cardiovascular System/physiopathology, DNA, Mitochondrial/genetics, Exercise Tolerance/physiology, Female, Humans, Molecular Sequence Data, Molecular Structure, Muscles/pathology, Muscular Dystrophies/genetics, Mutation/genetics, Nervous System/physiopathology, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, RNA/genetics, RNA, Mitochondrial, RNA, Transfer, Met/genetics",

author = "J Vissing and Salamon, {M B} and P Arlien-S{\o}borg and S N{\o}rby and P Manta and S DiMauro and H Schmalbruch",

year = "1998",

month = jun,

doi = "10.1212/wnl.50.6.1875",

language = "English",

volume = "50",

pages = "1875--8",

journal = "Neurology",

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publisher = "Lippincott Williams & Wilkins",

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TY - JOUR

T1 - A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance

AU - Vissing, J

AU - Salamon, M B

AU - Arlien-Søborg, P

AU - Nørby, S

AU - Manta, P

AU - DiMauro, S

AU - Schmalbruch, H

PY - 1998/6

Y1 - 1998/6

N2 - A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNA(Met) gene presented with growth retardation, muscle weakness, severe exercise intolerance, and lactic acidosis. Muscle biopsy showed unusually severe dystrophic features. The mutation was not present in maternal relatives or 25 healthy subjects. Single-fiber PCR-RFLP analysis of mtDNA showed higher proportion of the mutation in COX-negative than in COX-positive muscle fibers.

AB - A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNA(Met) gene presented with growth retardation, muscle weakness, severe exercise intolerance, and lactic acidosis. Muscle biopsy showed unusually severe dystrophic features. The mutation was not present in maternal relatives or 25 healthy subjects. Single-fiber PCR-RFLP analysis of mtDNA showed higher proportion of the mutation in COX-negative than in COX-positive muscle fibers.

KW - Adult

KW - Base Sequence

KW - Cardiovascular System/physiopathology

KW - DNA, Mitochondrial/genetics

KW - Exercise Tolerance/physiology

KW - Female

KW - Humans

KW - Molecular Sequence Data

KW - Molecular Structure

KW - Muscles/pathology

KW - Muscular Dystrophies/genetics

KW - Mutation/genetics

KW - Nervous System/physiopathology

KW - Polymerase Chain Reaction

KW - Polymorphism, Restriction Fragment Length

KW - RNA/genetics

KW - RNA, Mitochondrial

KW - RNA, Transfer, Met/genetics

U2 - 10.1212/wnl.50.6.1875

DO - 10.1212/wnl.50.6.1875

M3 - Journal article

C2 - 9633749

SN - 0028-3878

VL - 50

SP - 1875

EP - 1878

JO - Neurology

JF - Neurology

IS - 6

ER -

A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance

Abstract

Keywords

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