Outcome: Alaskan Husky Encephalopathy (AHE) has been previously proposed as
a mitochondrial encephalopathy based on neuropathological similarities with human Leigh Syndrome (LS).
They also suggested that ADCK3 mutations be considered in the differential diagnosis of
mitochondrial encephalopathy with POLG - like features.
Not exact matches
For example, the m. 3243A > G mutation can cause
mitochondrial myopathy
encephalopathy, lactic acidosis, and stroke (MELAS) when present at a frequency greater than 59 % [21].
212/2: 30 Missense mutations in the middle domain of DNM1L cause infantile
encephalopathy in humans and peroxisomal and
mitochondrial defects in Drosophila and humans.