A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case
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Erişim
Attribution 3.0 United Statesinfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/3.0/us/Tarih
2017Üst veri
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Ersoy, M., Akyol, M. B., Ceylaner, S., & Bicer, C. N. (2017). A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case. Clinical Case Reports, 5(8), 1284-1288. doi:10.1002/ccr3.1013Özet
Key Clinical Message 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-fat/high-carbohydrate diet treatment is highly effective.
Kaynak
Clinical Case ReportsCilt
5Sayı
8Koleksiyonlar
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Aksi belirtilmediği sürece bu öğenin lisansı: Attribution 3.0 United States
