Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041619 | Neuromuscular Disorders | 2014 | 5 Pages |
Abstract
Most patients with mutations in the tRNAlys 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.
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Authors
Tina Dysgaard Jeppesen, Morten Duno, Lotte Risom, Flemming Wibrand, Jabin Rafiq, Thomas Krag, Johannes Jakobsen, Henning Andersen, John Vissing,