Mutations in MT-TL1 (Mitochondrially encoded tRNA leucine 1)
A common mutation is A3243G. Can result in multiple mitochondrial deficiencies and associated disorders. It is associated with:
MELAS is a rare mitochondrial disorder known to affect many parts of the body, especially the nervous system and the brain. Symptoms of MELAS include:
I think the point of the question is to recognize that this is a mitochondrial disease (mother and maternal grandmother were affected). Produces wide range of effects, but muscle weakness and some neurologic deficits stood out to me. Also this: https://ghr.nlm.nih.gov/gene/MT-TL1#conditions
This is a presentation of mitochondrial myopathy. They often present with myopathy, lactic acidosis, and CNS disease. 2° to failure in oxidative phosphorylation. Muscle biopsy often shows “ragged red fibers”.
There is variable expression in a population or even within a family due to heteroplasmy in mitochondrial inheritance.
It's a mitochondrial disease.
- present in successive generations, always with maternal transmission
- damage to high-energy tissues
- CSF lactic acidosis (due to increased anaerobic metabolism due to impaired oxidative phosphorylation)