Tall stature and progressive overweight in mitochondrial encephalopathy

Journal of Inherited Metabolic Disease

Volumn 26, Issue 7, 2003, Pages 720-722

  Morava, E ^a   Hol, F A ^a   Janssen, A ^a   Smeitink, J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; TYROSINE;

ADOLESCENT; ARTICLE; BONE AGE; CASE REPORT; CHILD; CLINICAL OBSERVATION; ENDOCRINE DISEASE; FAILURE TO THRIVE; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; INHERITANCE; LEIGH DISEASE; MITOCHONDRIAL ENCEPHALOPATHY; OBESITY; OXIDATIVE PHOSPHORYLATION; POSTNATAL GROWTH; SCREENING TEST; TALL STATURE;

ADOLESCENT; AGING; BODY HEIGHT; CHILD; DNA, MITOCHONDRIAL; FEMALE; GROWTH; HUMANS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; OBESITY; POINT MUTATION;

EID: 0347519133     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000005647.71704.25     Document Type: Article

References (3)

1. Fryer A, Appleton R, Sweeney MG, Rosenbloom L, Harding AE (1994) Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogenous phenotype including cerebral palsy. Arch Dis Child 71: 419-422.
2. Suzuki Y, Wada T, Sakai T, et al (1998) Phenotypic variability in a family with a mitochondrial DNA T8993C mutation. Pediatr Neurol 19: 283-286.
3. Vazquez-Memije ME, Shanske S, Santorelli FM, et al (1998) Comparative biochemical studies of ATPases in cells from patients with the T8993G and T8993C mitochondrial DNA mutations. J Inherit Metab Dis 21: 829-836.