Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Table 1

Summary of reported patients with the c.3104+3A > T POLG variant in compound heterozygosity.

Authors	Sex	Ptosis onset (age, years)	Additional POLG variant	Symptoms
Milone et al. [13]	M	62	p.(Phe749Ser)	(i) Moderate bilateral ptosis; (ii) Severe ophthalmoplegia; (iii) Mild generalized weakness; (iv) Distal superficial sensory loss
Milone et al. [13]	M	Mid-40s	p.(Gly848Ser)	(i) Ptosis; (ii) Limited eye movements; (iii) Exercise intolerance; (iv) Sensorineural hearing loss; (v) Dysphagia; (vi) Generalized weakness
Roos et al.^a [12]	M	20	p.(Thr914Pro)	(i) Bilateral ptosis; (ii) Ophthalmoplegia; (iii) Exercise intolerance; (iv) Dysphagia; (v) Respiratory weakness
Roos et al.^a [12]	M	50	p.(Thr914Pro)	(i) Ophthalmoplegia; (ii) Ptosis; (iii) Proximal limb weakness; (iv) Facial weakness; (v) Respiratory weakness
Kurtz, et al. (current)	F	52	p.(Gly23Serfs236)	(i) Ophthalmoplegia; (ii) Bilateral ptosis; (iii) Exercise intolerance; (iv) Generalized muscle weakness; (v) Left-sided intention tremor

^aSiblings.