MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
Abstract Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an autosomal recessive disease caused by biallelic pathogenic ACADM variants. We report a case of an asymptomatic Japanese girl with MCAD deficiency caused by compound heterozygous pathogenic variants (NM_000016.5:c.1040G > ...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-01-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00177-3 |