Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Sign Up to like & getrecommendations! Published in 2024 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-024-03128-7
Abstract: Background Pathogenic missense variants in the dystrophin ( DMD ) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complicated. We aimed to investigate whether… read more here.
Keywords: protein studies; missense variants; mrna protein; dmd missense ... See more keywords
Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy
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DOI: 10.3390/ijms24043192
Abstract: Muscular dystrophy due to dystrophin deficiency in humans is phenotypically divided into a severe Duchenne and milder Becker type. Dystrophin deficiency has also been described in a few animal species, and few DMD gene variants… read more here.
Keywords: becker type; dystrophin; missense variant; dystrophy ... See more keywords