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Mitochondrial DNA Depletion Syndrome 12a
A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and is caused by autosomal dominant inheritance of heterozygous mutation in the solute c
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When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
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Overview
A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and is caused by autosomal dominant inheritance of heterozygous mutation in the solute c
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