Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence - Ghezzi, Daniele; Viscomi, Carlo; Ferlini, Alessandra; Gualandi, Francesca; Mereghetti, Paolo; DeGrandis, Domenico; Zeviani, Massimo (Human molecular genetics, 2009)
Keywords: Amino Acid Sequence; Animals; Base Sequence; Biological and medical sciences; Blotting, Western; Chlorocebus aethiops; Chorea - genetics; COS Cells; DNA Mutational Analysis; Female; Fluorescent Antibody Technique; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; HeLa Cells; Humans; Male; Medical sciences; Middle Aged; Mitochondria - metabolism; Molecular and cellular biology; Molecular Sequence Data; Muscle Proteins - chemistry; Muscle Proteins - genetics; Mutant Proteins - chemistry; Mutant Proteins - genetics; Mutation - genetics; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Pedigree; Protein Isoforms - chemistry; Protein Isoforms - genetics; Protein Sorting Signals - genetics; Nervous system diseases; Mitochondria; Targeting; Central nervous system disease; Genetics; Mutation; Neurological disorder; Involuntary movement; Cerebral disorder; Extrapyramidal syndrome; Dyskinesia