DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis

DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis

DMD gene pathogenic variations cause a spectrum of phenotypes, ranging from severe Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild muscle phenotypes invariably characterized by high CK, and the ultrarare fully-asymptomatic cases. Besides these phenotypes, X-linked...

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Bibliographic Details
Main Authors: Fernanda Fortunato, Laura Tonelli, Marianna Farnè, Rita Selvatici, Alessandra Ferlini
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Neurology
Subjects:
dystrophinopathy
DMD
BMD
DMD gene
asymptomatic
hyperCKemia
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1288721/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1288721/full

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