Genetic localization of Bethlem myopathy
- 1 March 1996
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 46 (3) , 779-782
- https://doi.org/10.1212/wnl.46.3.779
Abstract
In spite of slowly ongoing deterioration of muscle power, ability to work is preserved until old age. [2] Many patients remain ambulant, often with the help of a cane, whereas others become wheelchair-dependent for outdoor transportation (manuscript in preparation). There is no cardiac involvement [2,5] and life expectancy is unaffected. [1] Ancillary investigations such as electrophysiologic studies and muscle biopsy indicate a myopathic origin of the disease. [2]Keywords
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