Mutación; Proteína Proteolipídica de la Mielina/genética; Paraplejía Espástica Hereditaria/genética; Femenino; Humanos; Masculino; Linaje

C; DM20; DNA; EGFP; ER; G; HSP; Hereditary spastic paraplegia; L1 cell adhesion molecule (human gene); L1CAM; MUT; NCBI; National Center for Biotechnology Information; Novel mutation; OMIM; Online Mendelian Inheritance in Man; PDI; PLP1; PMD; Pelizaeus­Merzbacher disease; Plp1; SPG1; UPR; WT; c.88G>C; c.89C>A; cDNA; cDNA nucleotide 88 is changed from guanosine to cytidine; cDNA nucleotide 89 is changed from cytidine to adenosine; complementary DNA; cytidine; deoxyribonucleic acid; endoplasmic reticulum; enhanced green fluorescent protein; guanosine; hereditary spastic paraplegia; isoform of PLP1; kb; kilobase; mutant; p.A30E; p.A30P; protein amino acid 30 is changed from alanine to glutamic acid; protein amino acid 30 is changed from alanine to proline; protein disulfide isomerase; proteolipid protein 1 (human gene); proteolipid protein 1 (human protein); proteolipid protein 1 (mouse gene); spastic paraplegia type 1; unfolded protein response; wild type