Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference30 articles.
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2. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C;Speckman;Am J Hum Genet,2000
3. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy;Shackleton;Nat Genet,2000
4. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease;Fatkin;N Engl J Med,1999
5. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement;Brodsky;Circulation,2000
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1. Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes;International Journal of Molecular Sciences;2024-08-28
2. Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review;The Journal of Clinical Endocrinology & Metabolism;2023-10-16
3. A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities;American Journal of Medical Genetics Part A;2023-06-30
4. Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review;Cells;2023-02-24
5. Emery-Dreifuss Muscular Dystrophies;Current Clinical Neurology;2023
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