TY - JOUR
T1 - Current concepts of mitochondrial disorders in childhood
AU - Borchert, Astrid
AU - Wolf, Nicole I.
AU - Wilichowski, Ekkehard
PY - 2002
Y1 - 2002
N2 - Respiratory chain deficiencies have long been regarded as rare neuromuscular diseases mostly originating from mutations in the mitochondrial genome. Research in the last years has created quite a different picture. The clinical spectrum has expanded to multiorgan disease manifestation, with an estimated minimum incidence in children of 1:11,000. Mutations in the nuclear genome have been discovered in recent years, thereby adding mendelian genetics to the broadened spectrum of mitochondrial disease. This review summarizes recent advances in mitochondrial disorders with a special focus on childhood presentation and therapeutic approaches that may prove useful in the future.
AB - Respiratory chain deficiencies have long been regarded as rare neuromuscular diseases mostly originating from mutations in the mitochondrial genome. Research in the last years has created quite a different picture. The clinical spectrum has expanded to multiorgan disease manifestation, with an estimated minimum incidence in children of 1:11,000. Mutations in the nuclear genome have been discovered in recent years, thereby adding mendelian genetics to the broadened spectrum of mitochondrial disease. This review summarizes recent advances in mitochondrial disorders with a special focus on childhood presentation and therapeutic approaches that may prove useful in the future.
UR - http://www.scopus.com/inward/record.url?scp=0035996038&partnerID=8YFLogxK
U2 - https://doi.org/10.1053/spen.2002.33800
DO - https://doi.org/10.1053/spen.2002.33800
M3 - Article
C2 - 12138999
SN - 1071-9091
VL - 9
SP - 151
EP - 159
JO - Seminars in Pediatric Neurology
JF - Seminars in Pediatric Neurology
IS - 2
ER -