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Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia
We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA...
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| Veröffentlicht in: | Eur J Med Genet |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6379073/ https://ncbi.nlm.nih.gov/pubmed/28711739 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2017.07.010 |
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