PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 20197121-3 2010 Our report enlarges the phenotypic spectrum of SUCLG1 mutations and confirms that a characteristic metabolic profile (presence of MMA and C4-DC carnitine in urines) and basal ganglia MRI lesions are the hallmarks of SCS defects. Carnitine 144-153 succinate-CoA ligase GDP/ADP-forming subunit alpha Homo sapiens 47-53