A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F
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Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscular diseases that predominantly affect the proximal muscles. Pathogenic variants in TNPO3 have been associated with a rare, autosomal dominant limb-girdle muscular dystrophy... ...
