Results 1 to 10 of about 4,511 (155)

Emery‐Dreifuss muscular dystrophy [PDF]

Muscle and Nerve, 2020
AbstractEmery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life‐threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these ...
Renata Shih
exaly   +9 more sources

Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy [PDF]

Cells, 2018
LMNA linked-Emery-Dreifuss muscular dystrophy (EDMD2) is a rare disease characterized by muscle weakness, muscle wasting, and cardiomyopathy with conduction defects.
Elisabetta Mattioli, Marta Columbaro, Mohammed Hakim Jafferali, Elisa Schena, Einar Hallberg, Giovanna Lattanzi   +5 more
doaj   +6 more sources

Clinical aspects of Emery-Dreifuss muscular dystrophy [PDF]

Nucleus, 2018
Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin ...
Agnieszka Madej-Pilarczyk
exaly   +5 more sources

Several challenges associated with the anesthetic management of Emery-Dreifuss muscular dystrophy patients: case report [PDF]

Brazilian Journal of Anesthesiology, 2023
Emery-Dreifuss Muscular Dystrophy is a very rare type of muscular dystrophy, associated with contractures, atrophy, and muscle weakness, besides cardiomyopathy with severe arrhythmias. Published studies focusing on this disorder are scarce.
Ana Isabel Leite, Sofia da Silva Ramos, Raquel In..cio, Isabel Rute Vilhena, Joana Carvalhas   +4 more
doaj   +2 more sources

A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis [PDF]

BMC Pediatrics
Background Emery-Dreifuss muscular dystrophy is a rare muscular dystrophy characterised by muscle weakness, joint contractures, and cardiac involvement.
Sachith Mettananda, Thakshila Vipulanayake, Gihani Dineshika, Tharindi Suriapperuma, Manissha Rajeindran, Padmapani Padeniya   +5 more
doaj   +2 more sources

Emery-Dreifuss muscular dystrophy [PDF]

Anaesthesia, 1991
Summary Emery‐Dreifuss syndrome is a rare form of muscular dystrophy associated with cardiac complications that lead to sudden death. The disorder and its potential anaesthetic implications in the management of a patient who presented for orthopaedic surgery is described.
P, Morrison, R H, Jago
exaly   +3 more sources

X-linked Emery–Dreifuss muscular dystrophy caused by a novel mutation: A case report [PDF]

Journal of International Medical Research
This study characterizes a multigenerational family with X-linked Emery–Dreifuss muscular dystrophy associated with a novel FHL1 mutation (c.746G>A, p.Cys249Tyr). Among 21 family members, 5 were affected and 3 had died. The affected individuals exhibited
Haimei Zhang, Siming Tang, Wei Zhang, Wei Wang, Wei Tang   +4 more
doaj   +2 more sources

Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype [PDF]

Biomolecules, 2021
The Cdkn2a locus is one of the most studied tumor suppressor loci in the context of several cancer types. However, in the last years, its expression has also been linked to terminal differentiation and the activation of the senescence program in ...
Gloria Pegoli, Marika Milan, Pierluigi Giuseppe Manti, Andrea Bianchi, Federica Lucini, Philina Santarelli, Claudia Bearzi, Roberto Rizzi, Chiara Lanzuolo   +8 more
doaj   +2 more sources

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report [PDF]

BMC Pediatrics, 2022
Background Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies.
Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai   +9 more
doaj   +2 more sources

Emery-Dreifuss muscular dystrophy [PDF]

European Journal of Human Genetics, 2002
Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and ...
Gisele Bonne, Anne Helbling-Leclerc, Bonne Gisele   +2 more
exaly   +3 more sources