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Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD
PURPOSE: 3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, muscular hypo...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422778/ https://www.ncbi.nlm.nih.gov/pubmed/25356967 http://dx.doi.org/10.1038/gim.2014.157 |