Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.
Neuromuscul Disord
; 39: 5-9, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38653179
ABSTRACT
Duchenne muscular dystrophy is a neuromuscular disease caused by DMD gene mutations that result in an absence of functional dystrophin protein. Patients with Duchenne experience progressive muscle weakness, are typically wheelchair dependent by their early teens, and develop respiratory and cardiac complications that lead to death in their twenties or thirties. Becker muscular dystrophy is also caused by DMD gene mutations, but symptoms are less severe and progression is slower compared with Duchenne. We describe a case study of a patient with Becker muscular dystrophy who was still ambulant at age 61 years and had a milder phenotype than Duchenne, despite 46% of his DMD gene being missing. His affected relatives had similarly mild phenotypes and clinical courses. These data guided the understanding of the criticality of various regions of dystrophin and informed the development of micro-dystrophin constructs to compensate for the absence of functional dystrophin in Duchenne.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Dystrophin
/
Muscular Dystrophy, Duchenne
Limits:
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
2024
Document type:
Article