Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients

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...

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Veröffentlicht in:	Acta neurologica Belgica 2021-08, Vol.121 (4), p.1019-1033
Hauptverfasser:	De Paepe, Boel, Velghe, Elise, Salminen, Linnea, Toth, Balint, Olivier, Pieter, De Bleecker, Jan L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biomedical and Life Sciences Biomedicine Biopsy Cohort Studies Female Genetic Variation - genetics Humans Male Medicine/Public Health Middle Aged Muscle Weakness - genetics Muscle Weakness - pathology Muscle, Skeletal - pathology Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Neurology Neuroradiology Neurosciences Original Article Proteomics - methods Whole Exome Sequencing - methods Young Adult
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