Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference37 articles.
1. Laminopathies": a wide spectrum of human diseases;Worman;Exp. Cell Res.,2007
2. De novo LMNA mutations cause a new form of congenital muscular dystrophy;Quijano-Roy;Ann. Neurol.,2008
3. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy;Bonne;Nat. Genet.,1999
4. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes;Vytopil;J. Med. Genet.,2003
5. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B);Muchir;Hum. Mol. Genet.,2000
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review;Journal of Musculoskeletal Surgery and Research;2024-01-31
2. Infantile-Onset LMNA-Related Congenital Muscular Dystrophy Presenting as Torticollis: A Case Report;Journal of Electrodiagnosis and Neuromuscular Diseases;2023-04-30
3. LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation;Frontiers in Genetics;2023-03-24
4. Characterization of cardiac involvement in children with LMNA-related muscular dystrophy;Frontiers in Cell and Developmental Biology;2023-03-10
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