Laminopathies: Multisystem dystrophy syndromes
- 30 April 2006
- journal article
- review article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 87 (4), 289-302
- https://doi.org/10.1016/j.ymgme.2005.10.018
Abstract
No abstract availableKeywords
This publication has 87 references indexed in Scilit:
- Two patients with ‘Dropped head syndrome’ due to mutations in LMNA or SEPN1 genesNeuromuscular Disorders, 2005
- In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patientsJournal of Medical Genetics, 2005
- Somatic and gonadal mosaicism in Hutchinson–Gilford progeriaAmerican Journal of Medical Genetics Part A, 2005
- Acquired and Inherited LipodystrophiesNew England Journal of Medicine, 2004
- Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutationsJournal of Medical Genetics, 2003
- The phenotypic manifestations of autosomal recessive axonalCharcot–Marie–Tooth due to a mutation in Lamin A/C geneNeuromuscular Disorders, 2003
- Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1BJournal of Human Genetics, 2002
- LMNA, encoding lamin A/C, is mutated in partial lipodystrophyNature Genetics, 2000
- Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System DiseaseNew England Journal of Medicine, 1999
- 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2–HMSN II) and Distal Hereditary Motor Neuropathy (Distal HMN–Spinal CMT)Neuromuscular Disorders, 1998