Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Clinical and genetic spectrum of SCN2A-associated episodic ataxia

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Decline in severe spastic cerebral palsy at term in Denmark 1999-2007

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Pediatric autoimmune encephalitis in Denmark during 2011-17: A nationwide multicenter population-based cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Bimagrumab vs Optimized Standard of Care for Treatment of Sarcopenia in Community-Dwelling Older Adults: A Randomized Clinical Trial

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Editorial: Remaining diagnostic issues and start of a treatment era for muscle diseases

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Volume19
Issue number1
Pages (from-to)69-71
Number of pages3
ISSN1090-3798
DOIs
Publication statusPublished - Jan 2015

ID: 44914241