Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-8448b6f56d-gtxcr Total loading time: 0 Render date: 2024-04-23T23:39:30.268Z Has data issue: false hasContentIssue false

Chapter 8 - Neurology – the Peripheral Nervous System – Muscle and Nerve

from Section 2 - Systems Involved in Mitochondrial Diseases

Published online by Cambridge University Press:  28 April 2018

By
Robert D. S. Pitceathly ,
Michael G. Hanna  and
Mary M. Reilly
Edited by
Patrick F. Chinnery  and
Michael J. Keogh
Patrick F. Chinnery
Affiliation:
University of Cambridge
Michael J. Keogh
Affiliation:
University of Newcastle upon Tyne
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Clinical Mitochondrial Medicine , pp. 84 - 94
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Pitceathly, RDS, Rahman, S, Hanna, MG. Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice. Neuromuscul Disord 2012 Jul;22(7):577–586.CrossRefGoogle ScholarPubMed
Nesbitt, V, Pitceathly, RDS, Turnbull, DM, et al. The UK MRC Mitochondrial Disease Patient Cohort Study: Clinical phenotypes associated with the m.3243A>G mutation – implications for diagnosis and management. J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):936–938.Google Scholar
Rahman, S, Hanna, MG. Diagnosis and therapy in neuromuscular disorders: Diagnosis and new treatments in mitochondrial diseases. J Neurol Neurosurg Psychiatry 2009 Sep;80(9):943–953.Google Scholar
Hanisch, F, Kornhuber, M, Alston, CL, et al. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. J Neurol Neurosurg Psychiatry 2015 Jun;86(6)630–634.CrossRefGoogle Scholar
Garone, C, Tadesse, S, Hirano, M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 2011 Nov;134(Pt. 11):3326–3332.Google Scholar
Pitceathly, RDS, Murphy, SM, Cottenie, E, et al. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology 2012 Sep;79(11):1145–1154.CrossRefGoogle ScholarPubMed
Horga, A, Pitceathly, RDS, Blake, JC, et al. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Brain 2014 Dec;137(Pt. 12):3200–3212.Google Scholar
Pitceathly, RDS, Tomlinson, SE, Hargreaves, I, et al. Distal myopathy with cachexia: An unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. J Neurol Neurosurg Psychiatry 2013 Jan;84(1):107–110.CrossRefGoogle ScholarPubMed
Pitceathly, RDS, Morrow, JM, Sinclair, CDJ, Woodward, C, Sweeney, MG, Rahman, S, et al. Extra-ocular muscle MRI in genetically-defined mitochondrial disease. Eur Radiol 2015 May 21. [Epub ahead of print]Google ScholarPubMed
Chanprasert, S, Wong, L-JC, Wang, J, Scaglia, F. TK2-related mitochondrial DNA depletion syndrome, myopathic form. In Pagon, RA, Adam, MP, Ardinger, HH, Bird, TD, Dolan, CR, Fong, C-T, et al., editors. GeneReviews(®) [Internet]. Seattle: University of Washington, Seattle; 1993–2015.Google Scholar
Pfeffer, G, Majamaa, K, Turnbull, DM, et al. Treatment for mitochondrial disorders. Cochrane Database Syst Rev Online 2012 April;4:CD004426.Google Scholar
Pitceathly, RDS, McFarland, R. Mitochondrial myopathies in adults and children: Management and therapy development. Curr Opin Neurol 2014 Oct;27(5):576–582.Google Scholar
Clark, KM, Bindoff, LA, Lightowlers, RN, et al. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 1997 Jul;16(3):222–224.Google Scholar
Duncan, AJ, Knight, JA, Costello, H, et al. POLG mutations and age at menopause. Hum Reprod Oxf Engl 2012 Jul;27(7):2243–2244.CrossRefGoogle ScholarPubMed
Pitceathly, RDS, Taanman, J-W, Rahman, S, et al. COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. JAMA Neurol 2013 Dec;70(12):1556–1561.Google ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×