Myopathic Mitochondrial DNA Depletion Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-17-8-7

Myopathic Mitochondrial DNA Depletion Syndrome

Pediatric Neurology Briefs

Volume 17 (2003): Issue 8

By: J Gordon Millichap

Open Access

|Aug 2003

Abstract

Three siblings with the myopathic form of mitochondrial DNA depletion syndrome and a homozygous mutation in the TK2 gene are reported from Columbia University College of Physicians and Surgeons, New York, NY.

References

Mancuso M Filosto M Bonilla E Hirano M Shanske S Vu TH Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene Arch Neurol 2003 Jul 60 7 1007 9 10.1001/archneur.60.7.1007 12873860
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Skladal D Halliday J Thorburn DR Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 2003 Aug 126 Pt 8 1905 12 10.1093/brain/awg170 12805096
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-17-8-7 | Journal eISSN: 2166-6482

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Language: English

Page range: 62 - 62

Published on: Aug 1, 2003

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Limb Muscles,

Mitochondrial DNA,

Muscle Biopsy

© 2003 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 17 (2003): Issue 8