-transparent.png){kind=logo}
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. 2008
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
Mitochondrial DNA depletion syndromes are a heterogeneous group of childhood neurological disorders characterised by a quantitative abnormality of mitochondrial DNA. We describe two siblings who presented at 8 months and 14 months with myopathy, which rapidly progressed and resulted in death by respiratory failure at age 14 and 18 months, respectively. Muscle biopsy revealed marked respiratory chain defects, with real-time PCR confirming a dramatic depletion of mitochondrial DNA. Sequencing of the thymidine kinase 2 (TK2) gene revealed two, novel heterozygous mutations (p.Q87X and p.N100S) with parental DNA analysis confirming the transmission of mutated alleles.
Related Publications
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
June 2005,
Neuromuscular disorders : NMD,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
March 2006,
Pediatric neurology,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
July 2003,
Archives of neurology,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
August 2014,
Neuromuscular disorders : NMD,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
October 2002,
Neurology,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
January 1992,
Neurology,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
October 2006,
American journal of medical genetics. Part A,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
September 2010,
Archives of neurology,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
December 1992,
The Journal of pediatrics,
Emma Blakely, and
Langping He, and
Julie L Gardner, and
Gavin Hudson, and
John Walter, and
Imelda Hughes, and
Douglass M Turnbull, and
Robert W Taylor
May 2003,
Molecular genetics and metabolism,
