Lung disease in FLNA mutation: confirmatory report.
Eur J Med Genet
; 54(3): 299-300, 2011.
Article
en En
| MEDLINE
| ID: mdl-21194575
ABSTRACT
Recently in this journal, Masurel-Paulet et al. reported the association between pulmonary disease and a mutation in X-linked FLNA in a male patient. We confirm this association in a female patient, showing that this complication is not sex-specific. Our patient has a FLNA missense mutation (c.220G > A) and presented with cerebral periventricular nodular heterotopia, cardiovascular abnormalities, and pulmonary disease consisting of lobar emphysema of the right middle pulmonary lobe with severe malacia of the right sided bronchus intermedius. Surgical resection of the right middle lobe was necessary and she had long-term oxygen dependency. Symptoms improved with age.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Proteínas Contráctiles
/
Mutación Missense
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Enfermedades Pulmonares
/
Proteínas de Microfilamentos
Límite:
Child, preschool
/
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Países Bajos