INHERITED MUSCLE DISEASE
نویسندگان
چکیده
منابع مشابه
Myotonia, a new inherited muscle disease in mice.
Electromyographic (EMG) and histological studies were carried out with the new mouse mutant myotonia (mto, autosomal recessive). Affected animals exhibited behavioral myotonia which was apparent at 2 weeks of age. EMG studies revealed myotonic discharges (prolonged repetitive discharges with recurrent variation in amplitude and frequency) in all skeletal muscles tested. These discharges were no...
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An inherited dystrophin deletion without muscle weakness Deletions of the dystrophin gene are known to be present in approximately 60 to 70%6 of Duchenne (DMD) and Becker (BMD) patients. We describe a boy and his maternal grandfather who both have raised creatine kinase levels and an identical deletion including exons 14-18 of the dystrophin gene but no muscle weakness. Muscle histology is norm...
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During the last few years a quiet revolution has been taking place in our ideas about the genetical basis of inherited disease. One way in which this has been manifested is by the increasing use in the literature of the term 'genetic heterogeneity', a term which is usually meant to imply that the same or very similar clinical syndromes may be produced by a number of quite different gene mutatio...
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ژورنال
عنوان ژورنال: British Journal of Anaesthesia
سال: 1980
ISSN: 0007-0912
DOI: 10.1093/bja/52.2.153