Annals of Indian Academy of Neurology
Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.
Deepak Amalnath, Jayaram Saibaba, Vaibhav Wadwekar, Krishnan Nagarajan, Santhakumar Senthilvelan
Published: 202610.4103/aian.aian_843_25
Abstract
ABSTRACT: Mitochondrial DNA maintenance defects (MDMD) are rare genetic disorders that typically present in infancy but can manifest later with multi-organ involvement. We describe four MDMD cases (age 19-25) with distinct clinical and genetic profil…
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