Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1986 | 2 |
2019 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.
J Neurol Neurosurg Psychiatry. 1986 Dec;49(12):1423-6. doi: 10.1136/jnnp.49.12.1423.
J Neurol Neurosurg Psychiatry. 1986.
PMID: 3806120
Free PMC article.
A family is described with a neuromuscular disorder characterised by possible X-linked recessive inheritance, a benign, slowly progressive muscular dystrophy with predominant humeroperoneal distribution and lack of contractures or pseudohypertrophy, central n …
A family is described with a neuromuscular disorder characterised by possible X-linked recessive inheritance, a benign, slowly progre …
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Borch JDS, Krag T, Holm-Yildiz SD, Cetin H, Solheim TA, Fornander F, Straub V, Duno M, Vissing J.
Borch JDS, et al.
Hum Mutat. 2022 Sep;43(9):1234-1238. doi: 10.1002/humu.24415. Epub 2022 Jul 16.
Hum Mutat. 2022.
PMID: 35607917
Free PMC article.
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of early-onset joint contractures, progressive muscle weakness, and cardiac involvement. ...Complete loss of all FHL1 isoforms combined with m …
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of …
Item in Clipboard
Benign muscular dystrophy with contractures: a new syndrome?
Bailey RO, Dentinger MP, Toms ME, Hans MB.
Bailey RO, et al.
Acta Neurol Scand. 1986 Apr;73(4):439-43. doi: 10.1111/j.1600-0404.1986.tb03302.x.
Acta Neurol Scand. 1986.
PMID: 3727920
Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery-Dreifuss disease and variants previously described, absence of cardiomyopathy is a distinguishing feature. ...
Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery …
Item in Clipboard
Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.
Dharmaraj T, Guan Y, Liu J, Badens C, Gaborit B, Wilson KL.
Dharmaraj T, et al.
Front Cell Dev Biol. 2019 Apr 5;7:48. doi: 10.3389/fcell.2019.00048. eCollection 2019.
Front Cell Dev Biol. 2019.
PMID: 31024910
Free PMC article.
Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery-Dreifuss muscular dystrophy and cardiomyopathy (LMNA, EMD), lipodystrophy, insulin resistance and type 2 diabetes (LMNA) and progeria (LMNA …
Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery-Dreifuss muscular …
Item in Clipboard
Cite
Cite