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Article Abstract
Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), partly overlaps with making double mutations possible, yet extremely rarely reported principally in patients with cardiomyopathy. Here, we report a novel m.8561 C>T substitution in the overlapping region of and in a child with early-onset ataxia, psychomotor delay and microcephaly, enlarging the clinical manifestations spectrum associated with CV deficiency.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879992 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2019.100543 | DOI Listing |
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