Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation

Journal of Medical Genetics

Volumn 33, Issue 7, 1996, Pages 621-622

  Yorifujij, Tohru ^a   Kawai, Masahiko ^a   Momoi, Toru ^a   Sasaki, Hiroshi ^a   Furusho, Kenshi ^a   Muroi, Junko ^b   Shimizu, Ken ^b   Takahashi, Yasuo ^b   Matsumura, Masahiko ^b   Nambu, Mitsuhiko ^b   Okuno, Takehiko ^b  

^a KYOTO UNIVERSITY HOSPITAL   (Japan)

^b TENRI HOSPITAL   (Japan)

Author keywords

Growth hormone deficiency; Mitochondrial mutation; Nephropathy

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA;

ADULT; ARTICLE; CASE REPORT; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY DISEASE; MALE; MELAS SYNDROME; MENTAL DEFICIENCY; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROVOCATION TEST; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHORT STATURE;

BLOTTING, SOUTHERN; CHILD; DIABETES MELLITUS; DNA, MITOCHONDRIAL; GROWTH HORMONE; HUMANS; MALE; MELAS SYNDROME; MITOCHONDRIAL MYOPATHIES; MUTATION; NEPHRITIS; PEDIGREE; POLYMERASE CHAIN REACTION; RNA, TRANSFER, LEU;

EID: 19144371422     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (3)

1. Rötig A, Goutières F, Niaudet P, Rustin P, et al. Deletion of mitochondrial DNA in patient with chronic tubulo-interstitial nephritis. J Pediatr 1995;126:597-601.
2. Leu(UUR) gene. Diabetologia 1995;38:193-200.
3. Bernardi H, De-Weille JR, Epelbaum J, et al. ATP-dependent K+ channels sensitive to antidiabetic sulfonylureas are present in adenohypophysis and are involved in growth hormone release. Proc Natl Acad Sci USA 1993;90:1340-4.