Article
Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant.
Neuromuscular disorders : NMD - 1 Aug 2021
Coimbra Neto Antônio Rodrigues, de Carvalho Samara Camaçari, Leoni Tauana Bernardes, Iwabe Cristina, Silva Thiago Quinaglia Araújo Costa, Coelho-Filho Otavio Rizzi, Marques Maria Julia, Nucci Anamarli, França Marcondes Cavalcante
Abstract excerpt
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....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.