All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: K561M
cDNA Position: 1882 a→t (exon 9)
|Dysmorphy, hypotonia, coloboma, heart failure, and liver insufficiency||Compound heterozygosity in cis with W748S||Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA were found with the mutation K561M in cis with W748S.||(Sarzi et al., 2007)