Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS. Mutations in MT-ATP6 are the most common, being m.8993T > C/G the classical muta...
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| Hoofdauteurs: | , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Taylor & Francis Group
2019-01-01
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| Reeks: | Mitochondrial DNA. Part B. Resources |
| Onderwerpen: | |
| Online toegang: | http://dx.doi.org/10.1080/23802359.2018.1553510 |
| Tags: |
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