Mitochondrial DNA depletion syndromes (Q40169): Difference between revisions
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Revision as of 05:52, 13 August 2026
The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C53.20 |
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| English | Mitochondrial DNA depletion syndromes |
The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form. |
Statements
CID11:5C53.20
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