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All inquiries, additions to the list, and comments should be made to Bill Copeland.

Amino Acid Substitution: S1095R cDNA Position: 3285 c→g (exon 21)
Disease	Genetics	Frequency	Reference
adPEO	Hearing loss, ptosis, Muscle weakness, optic atrophy		(Wong et al., 2008) PubMed
Failure to thrive	ar, found in trans w/ D1184N. Aslo, impaired liver functions, deafness, and demyelating sensomotor neuropathy	<0.5% of Dutch population	(Blok and van den Bosch et al., 2009) PubMed
Hepatic failure	Found in trans w/ A467T in a 6 mo. w/ hypotonia, liver failure, abnormal muscle histology, and developmentally delayed	Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies.	(Tang et al., 2011) PubMed
Myocerebrohepatopathy	Found w/A467T in a 4 y.o. boy with hypotonia, failure to thrive, and abnormalities in cranial nerve enhancement		(Horst et al., 2014) PubMed
SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis)	Found in cis w/T251I and P587L with PEO, muscle weakness, ataxia, and polyneuropathy. Similar to SANDO, but no dysarthria.		(Bereau et al., 2016) PubMed
SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis)	Found in trans w/T251I and P587L with ataxia, sensory neruopathy, PEO, deafness, and dysphagia.		(Bereau et al., 2016) PubMed