Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion.
C
C
Bruno
P
P
Gandullia
F M
FM
Santorelli
C
C
Biedi
I
I
Carbone
M
M
Bado
R
R
Gatti
C
C
Minetti
D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004700:Endocrine System Diseases / Q000235:genetics; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics; D007684:Kidney Tubules / Q000002:abnormalities; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics; D017384:Sequence Deletion
D004272:DNA, Mitochondrial