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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
Personal take on this article: Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically complex neuromuscular disorder, characterized by progressive muscle wasting, early-onset contractures, and life-threatening cardiac conduction issues. The disorder presents significant clinical variability, even among family members with the same genetic mutations, complicating its diagnosis and treatment. Traditionally, genome-wide association studies have struggled to identify all the causative mutations due to the disorder's genetic heterogeneity, with …
