Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?
Muscle Nerve
; 44(5): 826-8, 2011 Nov.
Article
en En
| MEDLINE
| ID: mdl-22006699
ABSTRACT
Patients with a partial reduction of merosin due to mutations in the laminin-α2 chain gene usually present with a mild form of congenital muscular dystrophy or a limb-girdle-like muscular dystrophy. To our knowledge, cardiac impairment has never been reported in such patients. A longitudinal study of a patient with partial laminin-α2 deficiency secondary to mutations in the LAMA2 gene revealed dilated cardiomyopathy with ventricular arrhythmias. Is this a chance association or a novel phenotype?
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Arritmias Cardíacas
/
Cardiomiopatía Dilatada
/
Laminina
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Muscle Nerve
Año:
2011
Tipo del documento:
Article
País de afiliación:
Italia