Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports
2010
Abstract
Mitochondrial encephalopathy with cardiomyopathy and lactic acidosis is a severe disorder arising out of a mutation in gene coding protein Sco2. The case reports of two girls with Sco2 protein deficit are described in our study.
Respiratory chain disorder was considered due to broad impairment of the central and peripheral nervous systems (encephalopathy, neuropathy) and other tissue and organ involvement (cardiomyopathy, myopathy, hepatopathy). Revealing the phenotype in a detailed clinical context may lead to targeted molecular-genetic analysis and specific diagnostics without calling upon other investigations.