Access the full text.
Sign up today, get DeepDyve free for 14 days.
A. Andreu, S. Dimauro (2003)
Current classification of mitochondrial disordersJournal of Neurology, 250
J. Ouweland, H. Lemkes, W. Ruitenbeek, L. Sandkuijl, M. Vijlder, P. Struyvenberg, J. Kamp, J. Maassen (1992)
Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafnessNature Genetics, 1
K. Auré, D. Sternberg, T. Maisonobe, S. Herson, C. Jardel, P. Blondy, A. Lombès, B. Eymard, P. Laforêt (2003)
Myopathie-lipomatose par mutation A8344G de l'ADN mitochondrial
Y. Campos, Miguel Martín, C. Navarro, P. Gordo, J. Arenas (1996)
Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosisNeurology, 47
B. Battersby, J. Loredo-Osti, E. Shoubridge (2003)
Nuclear genetic control of mitochondrial DNA segregationNature Genetics, 33
D. Wallace, Xianxian Zheng, M. Lott, J. Shoffner, J. Hodge, R. Kelley, C. Epstein, L. Hopkins (1988)
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA diseaseCell, 55
M. Wilson, J. DiZinno, D. Polanskey, J. Replogle, B. Budowle (2005)
Validation of mitochondrial DNA sequencing for forensic casework analysisInternational Journal of Legal Medicine, 108
M. Zeviani, P. Amati, N. Bresolin, C. Antozzi, G. Piccolo, A. Toscano, S. Didonato (1991)
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).American journal of human genetics, 48 2
K. Auré, D. Sternberg, T. Maisonobe, S. Herson, C. Jardel, P. Blondy, A. Lombès, B. Eymard, P. Laforêt (2003)
[Myopathy-lipomatosis associated with A8344G mitochondrial DNA mutation].Revue neurologique, 159 12
T. Wai, Daniella Teoli, E. Shoubridge (2008)
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomesNature Genetics, 40
B. Battersby, E. Shoubridge (2001)
Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication.Human molecular genetics, 10 22
S. Austin, F. Vriesendorp, F. Thandroyen, J. Hecht, O. Jones, D. Johns (1998)
Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutationNeurology, 51
J. Gámez, A. Playán, A. Andreu, C. Bruno, C. Navarro, C. Cervera, M. Arbos, S. Schwartz, J. Enríquez, J. Montoya (1998)
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNANeurology, 51
Klopstock (1994)
Multiple symmetric lipomatosis: Abnormalities in complex IV and multiple deletions in mitochondrial DNANeurology., 44
The maternally inherited 8344 A>G mutation in the mitochondrial Lys tRNA is classically associated with the myoclonic epilepsy, ragged‐red muscle fiber (MERRF) syndrome. Multiple lipomatosis (Madelung's disease) is occasionally described. Here we report a large kindred with a statistically significant clustering of very unusual clinical manifestations.
Annals of Human Genetics – Wiley
Published: Jan 1, 2012
Keywords: ; ; ; ; ;
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.