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The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache,(More)
The isometric Maximum Voluntary Contraction (MVC) of the right quadriceps femoris muscle was measured in 82 females and 58 males using a chair dynamometer and their mid-thigh quadriceps thickness was measured using real-time B-mode ultrasound. Statistically significant relationships (ranging from P < 0.001 to P < 0.0001) were found between quadriceps MVC,(More)
"Lysosomal glycogen storage disease with normal acid maltase" which was originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy and variable mental retardation. The pathological hallmark of the disease is intracytoplasmic vacuoles containing autophagic material and glycogen in skeletal and cardiac muscle cells.(More)
Mitochondrial encephalomyopathies are a heterogenous group of disorders with various biochemical defects of the respiratory chain (RC). Due to the considerable phenotypic diversity of the RC encephalomyopathies, they are included in the differential diagnosis of many cases of multisystem disease. Aside from clinical evaluation and family history, diagnosis(More)
A good standard reference for the highly polymorphic human mitochondrial DNA (mtDNA) sequence is essential for studies of normal and disease-related nucleotide variants in the mitochondrial genome. A consensus sequence for the human mitochondrial genome has been derived from thirteen unrelated mtDNA sequences. We report 128 nucleotide variants of the human(More)
Skeletal muscle mtDNA of three patients with mitochondrial encephalomyopathy, characterized clinically by myoclonic epilepsy and ragged-red fiber (MERRF) syndrome, has been sequenced to determine the underlying molecular defect(s). An A-to-G substitution of nt 8344 in the tRNA(Lys) gene, a substitution suggested to be associated with MERRF(More)
We measured quadriceps strength and thickness in 101 male alcoholic patients and in 58 controls in order to investigate the force-size relationships of skeletal muscle in an alcoholic population. The relationship of these parameters with the duration of alcoholism, nutritional status and biochemical and haematological markers of heavy chronic alcohol use(More)
State III (activated) mitochondrial respiration rates with pyruvate/malate, glutamate/malate, and succinate as substrates were assayed in isolated intact skeletal muscle mitochondria in 29 subjects aged 16-92 years. There was a significant negative correlation between respiration rate and age with all substrates tested. A similar trend was seen for(More)
Human disuse muscle atrophy frequently accompanies orthopedic injury, arthritis, or bed rest, and recovery is often incomplete despite current rehabilitation programs. We have studied the vastus lateralis muscle in 12 patients with chronic disuse atrophy associated with chronic osteoarthritis of the hip both preoperatively and after total hip arthroplasty.(More)
There have been few studies investigating the mechanism and nature of the hearing loss that occurs in the mitochondrial disorders. We studied 18 patients with the MELAS A3243G point mutation from four different kindreds. Pure tone audiometry, speech discrimination testing, acoustic reflexes, tympanometry, and brain stem auditory evoked responses were(More)