Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2004-04, Vol.41 (4), p.304-308
Hauptverfasser:	Csoka, A B, Cao, H, Sammak, P J, Constantinescu, D, Schatten, G P, Hegele, R A
Format:	Artikel
Sprache:	eng
Schlagworte:	a form of AD dilated cardiomyopathy AD limb girdle muscular dystrophy type 1B Aging Amino Acid Sequence Antibodies AR mandibuloacral dysplasia atypical progeria autosomal dominant autosomal recessive Base Sequence Biological and medical sciences Cardiomyopathy Cell Line Cell Nucleus - ultrastructure CMD1A diagnostic overlap DNA Mutational Analysis EDMD2 Emery-Dreifuss muscular dystrophy type 2 Fibroblasts General aspects. Genetic counseling Genotype HGPS Humans Hutchinson-Gilford Hutchinson-Gilford Progeria Syndrome Lamin Type A - genetics Letter to JMG LGMD1B LMNA MAD Medical genetics Medical sciences Microscopy Microscopy, Fluorescence Muscular dystrophy Mutation nuclear envelope Patients Phenotype Progeria - diagnosis Progeria - genetics Progeria - ultrastructure Syndrome Werner’s syndrome WRN
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