Narayanappa, G. ; Govindraju, C. ; Bindu, P. ; Kothari, S. ; Taly, A. ; Nahid, K. ; Thangaraj, K. (2015) Mitochondrial disorders with novel mutations – a study from a tertiary referral center in South India Neuromuscular Disorders, 25 . S205-S206. ISSN 0960-8966
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Official URL: http://www.nmd-journal.com/article/S0960-8966(15)0...
Related URL: http://dx.doi.org/10.1016/j.nmd.2015.06.080
Abstract
Impairment of mitochondrial oxidative phosphorylation leads to clinically and genetically heterogeneous myriad of mitochondrial disorders. A total of 118 cases (2007–2013) with clinical diagnosis of mitochondrial disorder fulfilling modified Walker's criteria were genetically analysed. 105 cases were found to have mutations (mt DNA, n = 105; nuclear mutations, n = 13). Amongst these, novel mutations seen in 75 cases (mtDNA, n = 66; nuclear, n = 9) include 46 males and 29 females with mean age at onset of 8.75 yrs (range: 4 months–47 yrs) majority (71.4%) children aged less than 18 yrs.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Elsevier Science. |
| ID Code: | 107901 |
| Deposited On: | 02 Jul 2017 10:51 |
| Last Modified: | 02 Jul 2017 10:51 |
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