Article
Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.
Acta neurologica Belgica - 1 Aug 2021
De Paepe Boel, Velghe Elise, Salminen Linnea, Toth Balint, Olivier Pieter, De Bleecker Jan L
Abstract excerpt
In the second most common dystrophy associated with predominant pelvic and shoulder girdle muscle weakness termed Limb-Girdle Muscular Dystrophy (LGMD), genetic complexity, large phenotypic variability, and clinical overlap can result in extensive diagnostic delays in certain individuals. In view of the large strides genetics has taken in this day and age, we address the question if muscle biopsies can still...
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