NARP Syndrome: A 20-Year Follow-Up
One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initia...
| Main Authors: | , |
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| Format: | Online |
| Language: | English |
| Published: |
S. Karger AG
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919433/ |