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Quoted phrase not found in phrase index: "Congenital muscular dystrophy due to LMNA mutation"
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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 …
They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dyst …
Myofibrillar myopathy in the genomic context.
Fichna JP, Maruszak A, Żekanowski C. Fichna JP, et al. J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10. J Appl Genet. 2018. PMID: 30203143 Review.
The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping symptoms. ...In addition, in many MFM patients, numerous genomic variants in muscle-related genes have been identified. The various myopathies an …
The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping sympt …
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. ...Eleven patients had de novo mutations, 4 - familial. In one family we observed intrafamilial variability of clinical co …
LMNA-related congenital muscular dystrophy (L-CMD) is the most severe phenotypic form of skeletal muscle laminop …
In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies.
Hinz BE, Walker SG, Xiong A, Gogal RA, Schnieders MJ, Wallrath LL. Hinz BE, et al. Int J Mol Sci. 2021 Oct 18;22(20):11226. doi: 10.3390/ijms222011226. Int J Mol Sci. 2021. PMID: 34681887 Free PMC article.
Mutations in the LMNA gene cause diseases called laminopathies. LMNA encodes lamins A and C, intermediate filaments with multiple roles at the nuclear envelope. LMNA mutations are frequently single base changes that cause diverse disease phenoty …
Mutations in the LMNA gene cause diseases called laminopathies. LMNA encodes lamins A and C, intermediate filaments wit …
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F. Sframeli M, et al. Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16. Neuromuscul Disord. 2017. PMID: 28688748
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. ...Pathogenic allelic muta …
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first …
Novel mutations in LMNA A/C gene and associated phenotypes.
Petillo R, D'Ambrosio P, Torella A, Taglia A, Picillo E, Testori A, Ergoli M, Nigro G, Piluso G, Nigro V, Politano L. Petillo R, et al. Acta Myol. 2015 Dec;34(2-3):116-9. Acta Myol. 2015. PMID: 27199538 Free PMC article.
Mutations in the lamin A/C gene (LMNA) have been associated with several phenotypes ranging from systemic to prevalent of muscle, heart, skin, nerve etc. ...The variant c.103-105del CTG was described post-mortem in a young patient with congenital muscular …
Mutations in the lamin A/C gene (LMNA) have been associated with several phenotypes ranging from systemic to prevalent of musc …
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
Heller F, Dabaj I, Mah JK, Bergounioux J, Essid A, Bönnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K. Heller F, et al. Cardiol Young. 2017 Aug;27(6):1076-1082. doi: 10.1017/S1047951116002079. Epub 2016 Dec 12. Cardiol Young. 2017. PMID: 27938454
Skeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital LMNA-related muscular dystrophy to later-onset Emery-Dreifuss muscular dystrophy, limb girdle muscula …
Skeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital …
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
D'Ambrosio P, Petillo R, Torella A, Papa AA, Palladino A, Orsini C, Ergoli M, Passamano L, Novelli A, Nigro V, Politano L. D'Ambrosio P, et al. Acta Myol. 2019 Jun 1;38(2):33-36. eCollection 2019 Jun. Acta Myol. 2019. PMID: 31309180 Free PMC article.
Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from neuromuscular, cardiac and metabolic disorders to premature aging syndromes. Skeletal muscle involvement may present with different phenotypes: limb-girdle muscular …
Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from neuromuscular, cardiac and …
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F. Mercuri E, et al. Muscle Nerve. 2005 May;31(5):602-9. doi: 10.1002/mus.20293. Muscle Nerve. 2005. PMID: 15770669
Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular dystrophy and to limb-girdle muscular dystrophy 1B (EDMD and LGMD1B). ...Our cases further expand the clinical spectru …
Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular …