Mitochondrial DNA depletion syndrome 8a
MONDO:0012792Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.
Also known as: RRM2B mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome caused by mutation in RRM2B, mitochondrial DNA depletion syndrome type 8a, mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy, MTDPS8A, Mngie, Rrm2B-related, RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic type with renal tubulopathy
25 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Nervous system disorder
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Musculoskeletal system disorder
(207)
Hereditary disease
(176)
Peripheral nervous system disorder
(114)
Neuromuscular disease
(106)
Peripheral neuropathy
(91)
Inborn mitochondrial metabolism disorder
(58)
Muscle tissue disorder
(56)