Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2). [electronic resource]
- American journal of medical genetics Jan 1999
- 132-9 p. digital
Publication Type: Journal Article
0148-7299
10.1002/(sici)1096-8628(19990115)82:2<132::aid-ajmg6>3.0.co;2-4 doi
Codon Diffuse Cerebral Sclerosis of Schilder--diagnostic imaging Female Genetic Linkage Genotype Humans Magnetic Resonance Imaging Male Mutation Myelin Proteolipid Protein--genetics Pedigree Phenotype Radiography Spastic Paraplegia, Hereditary--diagnostic imaging X Chromosome