Results 121 to 130 of about 283,904 (171)

Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel <i>LMNA</i> Pathogenic Variant. [PDF]

Mol Syndromol
Rahmuni Y, El Kadiri Y, Lyahyai J, Birouk N, Nesnassi M, Sefiani A, Ratbi I.   +6 more
europepmc   +1 more source

Novel candidate alleles associated with gene regulation for Emery-Dreifuss muscular dystrophy. [PDF]

EBioMedicine, 2020
Xiong H.
europepmc   +1 more source

Emery-Dreifuss muscular dystrophy as a possible cause of coronary embolism. [PDF]

Cardiol J, 2020
Tada A, Konishi T, Sato T, Sato T, Koizumi T, Takenaka S, Mizuguchi Y, Kadosaka T, Motoi K, Kobayashi Y, Komoriyama H, Kato Y, Omote K, Tsujinaga S, Kamada R, Kamiya K, Iwano H, Nagai T, Okazaki N, Matsuno Y, Anzai T.   +20 more
europepmc   +1 more source

Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. [PDF]

Cells
Cenni V, Evangelisti C, Santi S, Sabatelli P, Neri S, Cavallo M, Lattanzi G, Mattioli E.   +7 more
europepmc   +1 more source

Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy. [PDF]

Intern Med, 2020
Chiba Y, Fukushima A, Nakao M, Kobayashi Y, Ishigaki T, Tenma T, Kamiya K, Shingu Y, Ooka T, Matsui Y, Anzai T.   +10 more
europepmc   +1 more source

Atrial arrhythmias in Emery-Dreifuss muscular dystrophy: Approach to successful ablation. [PDF]

HeartRhythm Case Rep, 2020
Butt K, Ambati S.
europepmc   +1 more source

Emery-Dreifuss muscular dystrophy: focal point nuclear envelope. [PDF]

Curr Opin Neurol, 2019
Muchir A, Worman HJ.
europepmc   +1 more source

Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy. [PDF]

Biochem Biophys Rep, 2019
Vignier N, Vignier N, Mougenot N, Bonne G, Muchir A.   +4 more
europepmc   +1 more source

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Emery-Dreifuss Muscular Dystrophy

Seminars in Neurology, 1999
Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. This disorder is characterized by childhood onset of early contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Weakness is slowly progressive, but there is a broad spectrum of clinical severity. Patients and carriers are at risk
Stephen Warren
exaly   +3 more sources