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Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study
Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 (FLAD1) deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial dysfunction. CASE PRESENTATION: At the age of 3, the patient was found to have movement problems, such as difficulty rising from...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205324/ https://www.ncbi.nlm.nih.gov/pubmed/37229023 http://dx.doi.org/10.1097/MS9.0000000000000561 |