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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Article number	100097
Journal	Human Genetics and Genomics Advances
Volume	3
Issue number	2
DOIs	https://doi.org/10.1016/j.xhgg.2022.100097
Publication status	Published - 14 Apr 2022

OXPHOS defect, WES/WGS, cardiolipin, mitochondria, mitochondrial disease, mitochondrial phospholipid

ID: 22267037