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Year Number of Results
2000 1
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2012 2
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2014 4
2015 3
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2017 5
2018 3
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2020 7
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2024 0

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Page 1
Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.
Narasimhaiah D, Uppin MS, Ranganath P. Narasimhaiah D, et al. Indian J Pathol Microbiol. 2022 May;65(Supplement):S259-S270. doi: 10.4103/ijpm.ijpm_1074_21. Indian J Pathol Microbiol. 2022. PMID: 35562158 Free article. Review.
They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, a …
They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) inc …
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.
Bonne G, Quijano-Roy S. Bonne G, et al. Handb Clin Neurol. 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. Handb Clin Neurol. 2013. PMID: 23622360 Free article. Review.
In the last years, the spectrum of conditions has been extraordinarily enlarged, from a congenital muscular dystrophy with severe paralytic or rapidly progressive picture due to de novo mutations in LMNA (L-CMD) to a limb-girdle muscular …
In the last years, the spectrum of conditions has been extraordinarily enlarged, from a congenital muscular dystrophy w …
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA, Akimenko MA, Tesson F. Nicolas HA, et al. Cells. 2019 Mar 29;8(4):291. doi: 10.3390/cells8040291. Cells. 2019. PMID: 30934932 Free PMC article. Review.
The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms-lamins A and C. ...
The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and a …
Congenital muscular dystrophies in China.
Ge L, Zhang C, Wang Z, Chan SHS, Zhu W, Han C, Zhang X, Zheng H, Wu L, Jin B, Shan J, Mao B, Zhong J, Peng X, Cheng Y, Hu J, Sun Y, Lu J, Hua Y, Zhu S, Wei C, Wang S, Jiao H, Yang H, Fu X, Fan Y, Chang X, Wang S, Bao X, Zhang Y, Wang J, Wu Y, Jiang Y, Yuan Y, Rutkowski A, Bönnemann CG, Wei W, Wu X, Xiong H. Ge L, et al. Clin Genet. 2019 Sep;96(3):207-215. doi: 10.1111/cge.13560. Epub 2019 Jun 6. Clin Genet. 2019. PMID: 31066047
The forms of CMD related to mutations in LMNA and SEPN1 were less frequent (12.5% and 2.4%, respectively). ...We provide, for the first time, comprehensive epidemiologic information of CMD in a large cohort of Chinese people. To our knowledge, this is the lar …
The forms of CMD related to mutations in LMNA and SEPN1 were less frequent (12.5% and 2.4%, respectively). ...We provide, for …
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Owens DJ, Messéant J, Moog S, Viggars M, Ferry A, Mamchaoui K, Lacène E, Roméro N, Brull A, Bonne G, Butler-Browne G, Coirault C. Owens DJ, et al. Int J Mol Sci. 2020 Dec 30;22(1):306. doi: 10.3390/ijms22010306. Int J Mol Sci. 2020. PMID: 33396724 Free PMC article.
The most frequent diseases associated with LMNA mutations are characterized by skeletal and cardiac involvement, and include autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B, and LMNA-related congenital mu …
The most frequent diseases associated with LMNA mutations are characterized by skeletal and cardiac involvement, and include autosoma …
The most severe form of LMNA-associated congenital muscular dystrophy.
Murofushi Y, Hayakawa I, Abe Y, Nakao H, Ono H, Kubota M. Murofushi Y, et al. Brain Dev. 2022 Oct;44(9):650-654. doi: 10.1016/j.braindev.2022.05.006. Epub 2022 Jun 18. Brain Dev. 2022. PMID: 35729056
LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of muscle weakness, predominantly in the cervical-axial muscles, and motor developmental retardation. Cardiac symptoms during the first decade …
LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of …
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A. Jędrzejowska M, et al. Eur J Paediatr Neurol. 2021 May;32:115-121. doi: 10.1016/j.ejpn.2021.04.005. Epub 2021 Apr 20. Eur J Paediatr Neurol. 2021. PMID: 33940562
LMNA-related congenital muscular dystrophy (L-CMD) is the most severe phenotypic form of skeletal muscle laminopathies. ...In one family we observed intrafamilial variability of clinical course: severe L-CMD in the male prob …
LMNA-related congenital muscular dystrophy (L-CMD) is the most severe phenotypic form of skeletal …
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
A specific LMNA missense variant, (p.Thr528Met), was previously identified in a compound heterozygous state in patients affected by APS and severe familial partial lipodystrophy, whereas heterozygosity was recently identified in patients affected by Type 2 familial partial …
A specific LMNA missense variant, (p.Thr528Met), was previously identified in a compound heterozygous state in patients affected by A …
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.
Maggi L, Mavroidis M, Psarras S, Capetanaki Y, Lattanzi G. Maggi L, et al. Int J Mol Sci. 2021 Apr 20;22(8):4256. doi: 10.3390/ijms22084256. Int J Mol Sci. 2021. PMID: 33923914 Free PMC article. Review.
Desmin, encoded by the DES gene (OMIM *125660) and A-type lamins by the LMNA gene (OMIM *150330), have been involved in striated muscle disorders. Diseases include desmin-related myopathy and cardiomyopathy (desminopathy), which can be manifested with dilated, restrictive, …
Desmin, encoded by the DES gene (OMIM *125660) and A-type lamins by the LMNA gene (OMIM *150330), have been involved in striated musc …
Cardiac findings in congenital muscular dystrophies.
Finsterer J, Ramaciotti C, Wang CH, Wahbi K, Rosenthal D, Duboc D, Melacini P. Finsterer J, et al. Pediatrics. 2010 Sep;126(3):538-45. doi: 10.1542/peds.2010-0208. Epub 2010 Aug 2. Pediatrics. 2010. PMID: 20679303 Review.
By means of a systematic literature search we reviewed the literature about CI in CMD and found that CI is apparently absent in Ullrich CMD or CMD with integrin deficiency and only mild in Bethlem CMD. ...Overall, CI in patients with CMD varies …
By means of a systematic literature search we reviewed the literature about CI in CMD and found that CI is apparently absent in Ullri …
48 results