Mitochondrial diseases are a group of disorders due to a mitochondrial respiratory chain deficiency. They may depend on mitochondrial genome (mtDNA-related disorders) as well as on a nuclear genome defect (nDNA-related disorders). mtDNA-related disorders encompass an increasing number of clinical pictures associated with more than 250 different provisional or confirmed pathogenic changes in mtDNA. Although some clinical syndromes are nosologically defined, most of the cases present with polymorphous phenotypes ranging from pure myopathy to multi-system involvement. Complexity of mitochondrial genetics is in part responsible for the extreme clinical intra- and inter-familial heterogeneity of this group of diseases. In this review, we briefly report an updated classification and overview the main clinical pictures of this class of diseases.
Skip Nav Destination
Article navigation
Research Article|
June 13 2007
Mitochondrial DNA-related Disorders
Michelangelo Mancuso;
Michelangelo Mancuso
1Department of Neuroscience, University of Pisa, Via Roma 67, Pisa 56126, Italy
Search for other works by this author on:
Massimiliano Filosto;
Massimiliano Filosto
2Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital “Spedali Civili”, Brescia, Italy
3Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
Search for other works by this author on:
Anna Choub;
Anna Choub
1Department of Neuroscience, University of Pisa, Via Roma 67, Pisa 56126, Italy
Search for other works by this author on:
Marta Tentorio;
Marta Tentorio
2Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital “Spedali Civili”, Brescia, Italy
Search for other works by this author on:
Laura Broglio;
Laura Broglio
2Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital “Spedali Civili”, Brescia, Italy
Search for other works by this author on:
Alessandro Padovani;
Alessandro Padovani
2Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital “Spedali Civili”, Brescia, Italy
Search for other works by this author on:
Gabriele Siciliano
Gabriele Siciliano
1Department of Neuroscience, University of Pisa, Via Roma 67, Pisa 56126, Italy
Search for other works by this author on:
Publisher: Portland Press Ltd
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© 2007 The Biochemical Society
2007
Biosci Rep (2007) 27 (1-3): 31–37.
Citation
Michelangelo Mancuso, Massimiliano Filosto, Anna Choub, Marta Tentorio, Laura Broglio, Alessandro Padovani, Gabriele Siciliano; Mitochondrial DNA-related Disorders. Biosci Rep 13 June 2007; 27 (1-3): 31–37. doi: https://doi.org/10.1007/s10540-007-9035-2
Download citation file:
Sign in
Don't already have an account? Register
Sign in to your personal account
You could not be signed in. Please check your email address / username and password and try again.
Could not validate captcha. Please try again.