The first session, the genetics of sudden death, focused on the heart. Professor K Bushby presented a compelling case for pursuing accurate diagnoses in muscular dystrophies. Emery-Dreifuss is a rare muscular dystrophy associated with muscle contractures and a high frequency of cardiac involvement. It may be caused by mutations in either the Emerin gene, in which case it follows an X-linked inheritance pattern, or the LMNA gene, in which case it can be inherited in either an autosomal dominant or recessive form. The clinical phenotype of LMNA mutations is broader than just Emery-Dreifuss, and Professor Bushby cautioned that clinicians should have a high index of suspicion in an undiagnosed dystrophy. Whilst X-linked Emery-Dreifuss can be di...
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac mus...
International audienceThe nuclear envelopathies, more frequently known as laminopathies are a rapidl...
Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from n...
The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characterize...
Aims: Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients sele...
Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-...
Emery-Dreifuss muscular dystrophy (EMD) was first de-scribed in 1961 by Dreifuss and Hogan. [1] It i...
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progre...
Myocardial involvement is frequently present in Xp21-linked muscular dystrophy, due to a lack of dys...
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progre...
Introducción: La distrofia muscular de Emery-Dreifuss (DMED), caracterizada por la tríada clínica de...
Aims Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selec...
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical ...
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contracture...
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contracture...
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac mus...
International audienceThe nuclear envelopathies, more frequently known as laminopathies are a rapidl...
Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from n...
The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characterize...
Aims: Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients sele...
Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-...
Emery-Dreifuss muscular dystrophy (EMD) was first de-scribed in 1961 by Dreifuss and Hogan. [1] It i...
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progre...
Myocardial involvement is frequently present in Xp21-linked muscular dystrophy, due to a lack of dys...
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progre...
Introducción: La distrofia muscular de Emery-Dreifuss (DMED), caracterizada por la tríada clínica de...
Aims Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selec...
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical ...
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contracture...
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contracture...
Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac mus...
International audienceThe nuclear envelopathies, more frequently known as laminopathies are a rapidl...
Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from n...