Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant
Abstract
Dystrophinopathies are a group of X-linked neuromuscular disorders that result from pathogenic variants in the DMD gene. Their pathophysiological substrate is the defective expression of dystrophin in many tissues. While patients from the same pedigree usually present similar dystrophin expression and clinical course, the extent of cardiac and skeletal muscle involvement may not correlate in the same individual. We identified a new splice site...
Paper Details
Title
Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant
Published Date
Aug 1, 2021
Journal
Volume
31
Issue
8
Pages
788 - 797
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