RT Journal Article
SR Electronic
T1 Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 429
OP 435
DO 10.1136/jmedgenet-2013-102256
VO 51
IS 7
A1 M Bricout
A1 D Grévent
A1 A S Lebre
A1 M Rio
A1 I Desguerre
A1 P De Lonlay
A1 V Valayannopoulos
A1 F Brunelle
A1 A Rötig
A1 A Munnich
A1 N Boddaert
YR 2014
UL http://jmg.bmj.com/content/51/7/429.abstract
AB Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their genetic diagnosis is difficult and genotype/phenotype correlations remain elusive. Brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we summarise the various combinations of MRI lesions observed in the most frequent mitochondrial respiratory chain deficiencies so as to direct molecular genetic test in patients at risk of such diseases. We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests.