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Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895674/ https://www.ncbi.nlm.nih.gov/pubmed/31844624 http://dx.doi.org/10.1016/j.ymgmr.2019.100528 |
| _version_ | 1783476608981532672 |
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| author | Barcia, Giulia Assouline, Zahra Pennisi, Alessandra Gitiaux, Cyril Schiff, Manuel Boddaert, Nathalie Munnich, Arnold Bonnefont, Jean-Paul Rötig, Agnès |
| author_facet | Barcia, Giulia Assouline, Zahra Pennisi, Alessandra Gitiaux, Cyril Schiff, Manuel Boddaert, Nathalie Munnich, Arnold Bonnefont, Jean-Paul Rötig, Agnès |
| author_sort | Barcia, Giulia |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6895674 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-68956742019-12-16 Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy Barcia, Giulia Assouline, Zahra Pennisi, Alessandra Gitiaux, Cyril Schiff, Manuel Boddaert, Nathalie Munnich, Arnold Bonnefont, Jean-Paul Rötig, Agnès Mol Genet Metab Rep Letter to the Editor Elsevier 2019-11-06 /pmc/articles/PMC6895674/ /pubmed/31844624 http://dx.doi.org/10.1016/j.ymgmr.2019.100528 Text en © 2019 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| spellingShingle | Letter to the Editor Barcia, Giulia Assouline, Zahra Pennisi, Alessandra Gitiaux, Cyril Schiff, Manuel Boddaert, Nathalie Munnich, Arnold Bonnefont, Jean-Paul Rötig, Agnès Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy |
| title | Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy |
| title_full | Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy |
| title_fullStr | Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy |
| title_full_unstemmed | Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy |
| title_short | Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy |
| title_sort | cytochrome c oxidase deficiency caused by biallelic sco2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895674/ https://www.ncbi.nlm.nih.gov/pubmed/31844624 http://dx.doi.org/10.1016/j.ymgmr.2019.100528 |
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