title: Phenotypic consequences of a novel SCO2 gene mutation.
mesh_terms: D001483:Base Sequence; D001927:Brain Diseases / Q000151:congenital / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000151:congenital* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D018389:Codon, Nonsense; D017931:DNA Primers / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D018832:Molecular Chaperones; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D011296:Prenatal Diagnosis
chemical_list: D002352:Carrier Proteins; D018389:Codon, Nonsense; D017931:DNA Primers; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C400285:SCO2 protein, human