A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
Muscle Nerve
; 36(6): 828-32, 2007 Dec.
Article
en En
| MEDLINE
| ID: mdl-17701980
ABSTRACT
Lamins are the principal components of the nuclear lamina, a network constituting the major structural framework of the nuclear envelope. Alterations in lamin A/C have been associated with a heterogeneous series of human disorders known as laminopathies. We report the finding of a novel deletion in the central rod domain of lamin A/C exon 3 gene in four members of the same family. This genetic alteration was likely responsible for the relatively homogeneous clinical phenotype observed in our three patients, represented by a prominent cardiac conduction-system disease necessitating permanent pacemaker implantation, and limited skeletal involvement manifested by spinal rigidity and contractures. The findings from these cases further expand the clinical spectrum associated with mutations in the LMNA gene.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
/
Distrofia Muscular de Emery-Dreifuss
/
Lamina Tipo A
/
Sistema de Conducción Cardíaco
/
Cardiopatías
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
Idioma:
En
Revista:
Muscle Nerve
Año:
2007
Tipo del documento:
Article
País de afiliación:
Italia