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Quoted phrase not found in phrase index: "Abnormal muscle fiber lamin A/C"
Page 1
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Neuropathol Appl Neurobiol. 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x.
Neuropathol Appl Neurobiol. 2001.
PMID: 11532159
We present our observations on the skeletal muscle pathology of nine cases from seven families of autosomal dominant Emery-Dreifuss muscular dystrophy (ADEDMD) with identified mutations in the lamin A/C gene, aged 2-35 years at the time of biopsy. ...E …
We present our observations on the skeletal muscle pathology of nine cases from seven families of autosomal dominant Emery-Dreifuss m …
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress.
Angori S, Capanni C, Faulkner G, Bean C, Boriani G, Lattanzi G, Cenni V.
Angori S, et al.
Cell Physiol Biochem. 2017;42(1):169-184. doi: 10.1159/000477309. Epub 2017 May 25.
Cell Physiol Biochem. 2017.
PMID: 28531892
Free article.
Emery-Dreifuss Muscular Dystrophy 2 (EDMD2) is a muscular disorder caused by mutations of the gene encoding lamin A, LMNA. As well as many phenotypic abnormalities, EDMD2 muscle cells also feature a permanent basal stress state, the underlying molecular mechanisms o …
Emery-Dreifuss Muscular Dystrophy 2 (EDMD2) is a muscular disorder caused by mutations of the gene encoding lamin A, LMNA. As well as many p …
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A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.
Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nonaka I, Nishino I.
Hattori A, et al.
Neuromuscul Disord. 2012 Feb;22(2):149-51. doi: 10.1016/j.nmd.2011.08.009. Epub 2012 Jan 11.
Neuromuscul Disord. 2012.
PMID: 22240398
The striking clinical feature was a dropped head, although she could walk unaided. T2/FLAIR brain MRI revealed a focal abnormality with high signal intensity in the white matter including U-fibers. ...This is the first report of an Asian patient with LMNA-related …
The striking clinical feature was a dropped head, although she could walk unaided. T2/FLAIR brain MRI revealed a focal abnormality wi …
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