POLG Pathogenicity Prediction Server

Patient data are sorted by mutation combination frequency.

Reference:

Tang et al, 2011;

Description:

Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood.

Mutations:

R953C, W748S

Age group:

adult

Age of Onset: n/a, Age of Patient: 51, Age of Death: n/a

Reference:

Tang et al, 2012;

[PubMed]

Description:

Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy

Mutations:

R953C, W748S

Age group:

adult

Age of Onset: n/a, Age of Patient: 50, Age of Death: n/a

Reference:

Gurgel-Giannetti et al, 2012;

[PubMed]

Description:

gait abnormalities and PEO, cognitive impairment and depressive and psychotic symptoms, masked face, bradykinesia, action tremor, stooped posture, rigidity, complete ophthalmoplegia, and mild proximal limb weakness, sensory polyneuropathy, myopathy, mild cardiomyopathy, Multiple mtDNA deletions in muscle

Mutations:

R953C, R953C

Age group:

adult

Age of Onset: 20, Age of Patient: 35, Age of Death: n/a

Reference:

Luoma et al, 2004;

[PubMed]

Description:

PEO, ptosis, muscle weakness, hypothyreosis, ataxia, asthma, balance disturbance.

Mutations:

R953C

Age group:

adult

Age of Onset: 22, Age of Patient: 29, Age of Death: n/a