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mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)

Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).

OTHER NAME(S): ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE

ABREVIATION(S):
MTDPS8A

TYPE: neurodegenerative disease

Related patway(s): modulation of nucleotide pools

DNAtraffic protein(s) related to disease: RRM2B

OMIM: 612075

Last modification date: Oct. 6, 2011