A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation

Journal of Child Neurology

Volumn 21, Issue 1, 2006, Pages 77-79

  Saneto, Russell P ^a   Bouldin, Anthony ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MULTIENZYME COMPLEX;

ANAMNESIS; ARTICLE; ARTIFICIAL VENTILATION; BONE EXAMINATION; BREATHING DISORDER; CARBON DIOXIDE TENSION; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME ANALYSIS; GROWTH HORMONE DEFICIENCY; HETEROPLASMY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERCAPNIA; IDIOPATHIC DISEASE; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION MAPPING; SCHOOL CHILD; SEQUENCE ANALYSIS; SLEEP APNEA SYNDROME; UPPER RESPIRATORY TRACT;

BIOPSY; CHILD; DNA, MITOCHONDRIAL; HUMANS; HYPERCAPNIA; MALE; MELAS SYNDROME; MUSCLE WEAKNESS; MUSCLE, SKELETAL; PHENOTYPE; POINT MUTATION; RNA, TRANSFER, LEU;

EID: 33646855363     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738060210010601     Document Type: Article

References (11)

1. Hirano M, Pavlakis SG: Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): Current concepts. J Child Neurol 1994;9:4-13.
2. Goto Y, Nonaka I, Horai S: A mutation in the tRNA (Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-653.
3. Goto Y, Nonaka I, Horai S: A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS). Biochem Biophys Acta 1991;1097:238-240.
4. Goto Y, Tojo M, Tohyama J, et al: A novel point mutation in the mitochondrial tRNA Leu (UUR) gene in a family with mitochondrial myopathy. Ann Neurol 1992;31:672-674.
5. Hanna MG, Nelson IP, Morgan-Huges JA, Wood NW: MELAS: A new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry 1998;65:512-517.
6. Hanna MG, Vaughan JR, Silburn PA, et al: Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice. J Neurol Neurosurg Psychiatry 1997;62:544-546.
7. Schapira AHV, Cooper JM, Morgan-Hughes JA, et al: Mitochondrial myopathy with a defect of mitochondrial-protein transport. N Engl J Med 1990;323:37-42.
8. DiMauro S, Bonilla E, Zeviani M, et al: Mitochondrial myopathies. Ann Neurol 1985;17:521-538.
9. Andreu AL, Bruno C, Shanski S, et al: Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology 1998;51:1444-1447.
10. Cholley F, Edery P, Ricquier D, et al: Mitochondrial respiratory chain deficiency revealed by hypothermia. Neuropediatrics 2001;32:104-106.
11. Varanasi SS, Francis RM, Berger CE, et al: Mitochondrial DNA deletion associated oxidative stress and severe male osteoporosis. Osteoporos Int 1999;10:143-149.