A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.

International journal of molecular medicine

Volumn 9, Issue 2, 2002, Pages 125-129

  Seeman, Pavel ^a   Paderova, Katerina ^a   Benes Jr , Vladimir ^a   Sistermans, Erik A ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

ARTICLE; CASE REPORT; CHILD; CODON; CZECH REPUBLIC; EXON; FATALITY; FEMALE; GENETICS; HUMAN; INFANT; MALE; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PRESCHOOL CHILD; RESTRICTION MAPPING;

CHILD; CHILD, PRESCHOOL; CODON; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; EXONS; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; RESTRICTION MAPPING;

MLCS; MLOWN;

EID: 0036484451     PISSN: 11073756     EISSN: None     Source Type: Journal    
DOI: 10.3892/ijmm.9.2.125     Document Type: Article

References (0)