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A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case
We evaluate the clinical findings and the treatment response of a late‐diagnosed case with a novel homozygous insertion c.13_14insG (p.P6Afs*202) result in a frameshift mutation in MLYCD gene. Both cardiac and neurologic involvements were mild when compared to previously reported cases, and see low‐...
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| Vydáno v: | Clin Case Rep |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5538191/ https://ncbi.nlm.nih.gov/pubmed/28781843 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1013 |
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