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Skin biopsies from the mother of a classical case of the Lesch-Nyhan syndrome grew only wild type fibroblasts. This suggested that she is not a heterozygous carrier of the mutant X-linked structural gene which causes the syndrome, and that a fresh mutation caused the disorder in her son. Evidence of mosaicism was sought in skin fibroblasts, hair follicles,(More)
A case of type 1 (adult) Gaucher's disease with a late onset tapeto-retinal degeneration and an initially dopamine responsive extrapyramidal syndrome is described. The literature reporting neurological involvement in type 1 Gaucher's disease is reviewed, and it is concluded that the absence of symptoms and signs of nervous system involvement cannot be used(More)
Myofibrillar protein catabolic rate was calculated in seven patients with Duchenne muscular dystrophy from the amount of 3-methylhistidine excreted in the urine, and found to be over three times that found in a control series when expresses as the percentage of myofibrillar protein catabolised per day. It is suggested that measurement of myofibrillar(More)
Myofibrillar protein catabolism has been calculated in a variety of neuromuscular diseases from the amount of 3-methylhistidine excreted in the urine. It was found to be significantly raised in Duchenne type muscular dystrophy, motor neurone disease, polymyositis, and thyrotoxic myopathy. In Becker type muscular dystrophy the level was slightly raised. It(More)
Emboli from left atrial myxomas are a recognized cause of cerebral ischaemia. The myxomatous embolus may infiltrate the cerebral arterial wall, resulting in aneurysmal dilatation with a risk of rupture. Myxoma-associated cerebral haemorrhage has been described in patients with progressive neurological dysfunction. We report a new presentation. Our patient,(More)
Ten patients with varying degrees of hypothroid myopathy were studied clinically and by serial percutaneous needle muscle biopsies before and during treatment with L-thyroxine. The biochemical evidence of hypothyroidism was related to the severity of the myopathic and signs before treatment. The severity of myopathic symptoms before and during treatment(More)
A survey of multiple sclerosis in the London Borough of Sutton, population 169,600, yielded 195 cases, giving an overall prevalence of 115/100,000. This is the third highest prevalence for a first survey of a geographical area in the United Kingdom, exceeded only by 127/100,000 in north east Scotland and 134/100,000 in Shetland. On the classification system(More)