Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

BACKGROUND: The mitochondrial DNA mutation A3302G in the tRNA(Leu(UUR)) gene causes respiratory chain complex I deficiency. The main clinical feature appears to be a progressive mitochondrial myopathy with proximal muscle weakness. OBJECTIVE: To report on clinical and molecular features in 4 novel patients with the A3302G mutation. DESIGN: Case reports. PATIENTS: Four patients (3 of whom are from the same family) with a myopathy caused by the A3302G mitochondrial DNA mutation. MAIN OUTCOME MEASURE: Identification of the A3302G mutation by DNA sequencing. RESULTS: All 4 patients had an adult-onset progressive mitochondrial myopathy with proximal muscle weakness, resulting in exercise intolerance. In 2 unrelated patients, upper limb reflexes were absent with preservation of at least some lower limb reflexes. Other features including hearing loss, recurrent headaches, ptosis, progressive external ophthalmoplegia, and depression were present. CONCLUSION: While the dominant clinical features of the A3302G mutation were exercise intolerance and proximal muscle weakness, other features of mitochondrial encephalomyopathies, previously not described for this mutation, were present.

Original publication

DOI

10.1001/archneur.62.12.1920

Type

Journal article

Journal

Arch Neurol

Publication Date

12/2005

Volume

62

Pages

1920 - 1923

Keywords

Adult, Brain, DNA Mutational Analysis, Depressive Disorder, Electron Transport, Exercise Tolerance, Female, Genetic Predisposition to Disease, Genetic Testing, Headache, Hearing Loss, Humans, Male, Mitochondrial Encephalomyopathies, Muscle, Skeletal, Mutation, Ocular Motility Disorders, RNA, RNA, Transfer, Leu, Reflex, Abnormal