LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient.
Finsterer
Josef
J
Neurological Hospital Rosenhügel, KA Rudolfstiftung, Vienna, Austria. duarte@jet2web.cc
Stöllberger
Claudia
C
D001483:Base Sequence / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D060850:LIM-Homeodomain Proteins; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000150:complications / Q000235:genetics*; D009261:Nail-Patella Syndrome / Q000150:complications / Q000235:genetics*; D014157:Transcription Factors
D004272:DNA, Mitochondrial; D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors