Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.03.011
Abstract: Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report… read more here.
Keywords: exon deletions; muscular dystrophy; contiguous exon; heterozygous contiguous ... See more keywords
Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030587
Abstract: Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically heterogeneous disease that is characterized by vascular disorder. FEVR exhibits strikingly variable clinical phenotypes, ranging from asymptomatic to total blindness. In this case, we present… read more here.
Keywords: novel exon; family; exon deletions; tspan12 three ... See more keywords
Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns.
Sign Up to like & getrecommendations! Published in 2022 at "Neurology India"
DOI: 10.4103/0028-3886.355142
Abstract: Background Oftentimes, a variation at the multiplex ligation-dependent probe amplification (MLPA) probe binding site leads to improper hybridrization/ligation of the probe showing up as a deletion of an exon leading to false positive results for… read more here.
Keywords: evaluation; deletion; exon deletions; single exon ... See more keywords