Results 91 to 100 of about 285,170 (145)

Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy. [PDF]

Hum Mutat, 2022
Borch JDS, Krag T, Holm-Yildiz SD, Cetin H, Solheim TA, Fornander F, Straub V, Duno M, Vissing J.   +8 more
europepmc   +1 more source

Molecular signatures of Emery-Dreifuss muscular dystrophy

, 2008
Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery ...
Wheeler, Matthew A., Ellis, Juliet A.
core   +1 more source

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series. [PDF]

Eur Heart J Case Rep, 2023
Kashyap N, Nikhanj A, Gagnon LR, Moukaskas B, Siddiqi ZA, Oudit GY.   +5 more
europepmc   +1 more source

Familial Testicular Germ Cell Tumor in Two Brothers With Emery Dreifuss Muscular Dystrophy Caused by an FHL-1 Mutation: A Case Report. [PDF]

Cureus, 2023
Angerer M, Wülfing C, Dieckmann KP.
europepmc   +1 more source

The spatial relationship of human chromosomes within the nuclei of normal and emerin-mutant cells

, 2001
Mahy, N, Gilchrist, S, Boyle, S, Bridger, JM, Bickmore, WA, Ellis, J   +5 more
core   +7 more sources

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees. [PDF]

Hum Mol Genet, 2023
de Las Heras JI, Todorow V, Krečinić-Balić L, Hintze S, Czapiewski R, Webb S, Schoser B, Meinke P, Schirmer EC.   +8 more
europepmc   +1 more source

Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5. [PDF]

J Neuroophthalmol, 2021
Douglas KAA, Douglas VP, Gaier ED, Chwalisz BK.   +3 more
europepmc   +1 more source

Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery-Dreifuss Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Orthop Surg, 2022
Tang Z, Hu Z, Qin X, Zhu Z, Liu Z.
europepmc   +1 more source

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient. [PDF]

Front Cardiovasc Med, 2022
Perepelina K, Zaytseva A, Khudiakov A, Neganova I, Vasichkina E, Malashicheva A, Kostareva A.   +6 more
europepmc   +1 more source

Genetic investigation of an Iraqi family with Emery-Dreifuss muscular dystrophy

Journal of Rare Diseases
Background Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterized by a distinctive combination of symptoms that affect both the skeletal muscles and the heart.
Mostafa Neissi, Ayoob Radhi Al-Zaalan, Adnan Issa Al-Badran, Javad Mohammadi-Asl   +3 more
doaj   +1 more source