Dystrophinopathies
JF Brandsema, BT Darras - Rosenberg's Molecular and Genetic Basis of …, 2025 - Elsevier
The dystrophinopathies fall along a spectrum of muscular dystrophy phenotypes, with
variable involvement of skeletal and cardiac muscle, inherited in an X-linked recessive …
variable involvement of skeletal and cardiac muscle, inherited in an X-linked recessive …
DMD gene and dystrophinopathy phenotypes associated with mutations: a systematic review for clinicians
JG Andrews, MK Galindo, S Thomas… - Journal of clinical …, 2023 - journals.lww.com
The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic
testing in approximately 95% of cases. Although specific mutations can be associated with …
testing in approximately 95% of cases. Although specific mutations can be associated with …
Dystrophinopathies
JF Brandsema, BT Darras - Rosenberg's Molecular and Genetic Basis of …, 2020 - Elsevier
The dystrophinopathies fall along a spectrum of muscular dystrophy phenotypes, with
variable involvement of skeletal and cardiac muscle, inherited in an X-linked recessive …
variable involvement of skeletal and cardiac muscle, inherited in an X-linked recessive …
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de nouveaux …
S Moutton - 2019 - theses.hal.science
Les anomalies du développement (AD) regroupent les syndromes malformatifs et les
pathologies neurodéveloppementales comme la déficience intellectuelle (DI) et les troubles …
pathologies neurodéveloppementales comme la déficience intellectuelle (DI) et les troubles …