540000.1.1

Saudi Arabia

Ataxia; Multifocal seizures; Cerebellar atrophy; Hypotonia; Spasticity; Increased serum lactate; Headache; Abdominal pain; Vomiting

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NC_012920.1:m.12299A>C			Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Patient is 65% and 80% heteroplasmic for this mutation in leukocytes and skeletal muscle cells respectively.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
540000.1.2	Saudi Arabia		Female			Mother of patient 540000.1.1 who is 30% heteroplasmic for this mutation in leukocyte cells