5] Nonstandard abbreviations: LGMD, limb girdle muscular dystrophy; SCA, spinocerebellar ataxia; MELAS, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; MERRF
, myoclonic epilepsy with ragged-red fibers; NARP, neurogenic muscle weakness, ataxia and retinitis pigmentosa syndrome; CMT, Charcot-Marie-Tooth.
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF
Cybrids were initially used to study issues of heteroplasmy and threshold for known diseases of mtDNA point mutation, such as MELAS and MERRF
org 1,2,3,4,5,6,7 National, informational, and Regional Conferences' MERRF
SYNDROME See: Myoclonus; Mitochondrial Disorders METABOLIC DISORDERS See also: Acidemia, Organic; Galactosemia; Lactic Acidosis; Maple Syrup Urine Disease; Neurotransmitter Diseases, Pediatric; Niemann-Pick Disease; Phenylketonuria (PKU) Cobalamin (B12) Defiency Climb The Quadrangle Crewe Hall Climb Bldg.
Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF
org 1,2,3,4,5,6,7 MERRF
SYNDROME See: Myoclonus; Mitochondrial Disorders METABOLIC DISORDERS See also: Acidemia, Organic; Galactosemia; Lactic Acidosis; Maple Syrup Urine Disease; Niemann-Pick Disease; Phenylketonuria (PKU) Metabolic Information Network PO Box 670847 Dallas, TX 75367-0847 (800) 945-2188 (USA/Canada) (214) 696-2188 (800) 955-3258 (fax, USA/Canada) (214) 696-3258 (fax) ?
A recent study used PNAs to examine specific mtDNA mutations in brain and muscle tissue from various age groups and found that the MELAS and MERRF
mutations did not accumulate with age, but mutations at np 414 adjacent to the control region promoters did accumulate with age in muscle but not in brain (27).