Emery-dreifuss Muscular Dystrophy
What's New
Last Posted: Jun 06, 2023
- Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report.
Ana Karina Zambrano, et al. Frontiers in neurology 2023 0 1183147 - LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar Sergi, et al. Frontiers in genetics 2023 0 1135438 - Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.
Sivitskaya Larysa N, et al. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2018 0 (4) 207-212 - Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.
Fan Yanbin, et al. Journal of medical genetics 2020 0 (5) 326-333 - Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy.
Marchel Micha?, et al. Cardiology research and practice 2021 0 8812044 - Novel candidate alleles associated with gene regulation for Emery-Dreifuss muscular dystrophy.
Xiong Hui, et al. EBioMedicine 2020 0 102620 - Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Winckler Pablo Brea et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 - Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty Samya et al. Frontiers in neurology 2020 11559327 - A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke Peter et al. EBioMedicine 2019 Dec - Emery-Dreifuss Muscular Dystrophy.
Heller Scott A et al. Muscle & nerve 2019 Dec - CLINGEN Actionability Report for Emery-Dreifuss Muscular Dystrophy (AD, XL) - LMNA, EMD, FHL1
ClinGen Actionability Working Group - Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.
Madej-Pilarczyk A, et al. Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences 2015 0 (3) 270-4 - Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Weihl Conrad C, et al. Neuromuscular disorders : NMD 2015 4 (4) 289-96 - A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
Friedrich FW, et al. European journal of heart failure 2012 11 - Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
Brown CA, et al. Journal of human genetics 2011 6 - Emery-Dreifuss muscular dystrophy
From NCATS Genetic and Rare Diseases Information Center - Emery-Dreifuss muscular dystrophy, dominant type
From NCATS Genetic and Rare Diseases Information Center - Emery-Dreifuss muscular dystrophy, X-linked
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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