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What is Spinal Muscular Atrophy Risk Assessment about?
The document describes a pedigree showing a family affected by a rare syndrome of external ophthalmoplegia, parkinsonism, and early menopause. DNA studies found multiple deletions of various sizes in mitochondrial DNA in affected family members. The most likely mode of inheritance for this syndrome is mitochondrial inheritance with incomplete penetrance, as mitochondrial DNA is maternally inherited and deletions can cause variable expression of traits.
- Author
- ana
- Language
- EN