A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood
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A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood. / Born, Alfred Peter; Duno, Morten; Rafiq, Jabin; Risom, Lotte; Wibrand, Flemming; Østergaard, Elsebet; Vissing, John.
I: European Journal of Paediatric Neurology, Bind 19, Nr. 1, 01.2015, s. 69-71.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood
AU - Born, Alfred Peter
AU - Duno, Morten
AU - Rafiq, Jabin
AU - Risom, Lotte
AU - Wibrand, Flemming
AU - Østergaard, Elsebet
AU - Vissing, John
N1 - Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
PY - 2015/1
Y1 - 2015/1
N2 - A 10-year-old girl presented with exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution. She had delayed achievement of motor milestones and difficulties with social interaction at pre-school age. Muscle biopsy showed no myopathic or dystrophic features, but 90% COX negative fibres and ragged blue fibres. Respiratory chain enzyme analysis in muscle showed a combined deficiency and mitochondrial DNA sequencing revealed the presence of an m.4450G>A mutation in the MT-TM gene encoding the tRNA for methionine. The mutation was only detected in mtDNA extracted from muscle and skin fibroblast, and could not be found in other tissues or in the mother. This is the second patient reported in the literature with a mitochondrial myopathy due to a mt-tRNA(Met) mutation. The first patient, a 30-year-old woman, presented with exercise intolerance, limb girdle muscle weakness, lactic acidosis, learning difficulty, and growth retardation in early childhood. Thus, the two patients exhibit strikingly overlapping phenotypes.
AB - A 10-year-old girl presented with exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution. She had delayed achievement of motor milestones and difficulties with social interaction at pre-school age. Muscle biopsy showed no myopathic or dystrophic features, but 90% COX negative fibres and ragged blue fibres. Respiratory chain enzyme analysis in muscle showed a combined deficiency and mitochondrial DNA sequencing revealed the presence of an m.4450G>A mutation in the MT-TM gene encoding the tRNA for methionine. The mutation was only detected in mtDNA extracted from muscle and skin fibroblast, and could not be found in other tissues or in the mother. This is the second patient reported in the literature with a mitochondrial myopathy due to a mt-tRNA(Met) mutation. The first patient, a 30-year-old woman, presented with exercise intolerance, limb girdle muscle weakness, lactic acidosis, learning difficulty, and growth retardation in early childhood. Thus, the two patients exhibit strikingly overlapping phenotypes.
KW - Acidosis, Lactic
KW - Age of Onset
KW - Child
KW - DNA, Mitochondrial
KW - Developmental Disabilities
KW - Exercise Tolerance
KW - Extremities
KW - Female
KW - Growth Disorders
KW - Humans
KW - Learning Disorders
KW - Magnetic Resonance Imaging
KW - Mitochondrial Diseases
KW - Muscle Fibers, Skeletal
KW - Muscle Weakness
KW - Mutation
KW - Neurologic Examination
KW - RNA, Transfer, Met
U2 - 10.1016/j.ejpn.2014.10.006
DO - 10.1016/j.ejpn.2014.10.006
M3 - Journal article
C2 - 25468263
VL - 19
SP - 69
EP - 71
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 1
ER -
ID: 162380772