Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
Neuromuscul Disord
; 16(12): 870-3, 2006 Dec.
Article
en En
| MEDLINE
| ID: mdl-17113772
ABSTRACT
We report a limb-girdle muscular dystrophy 2I family with three affected sisters and a highly variable clinical course. FKRP gene sequencing showed that all three sisters carried a nonsense paternal mutation (W225X). The two oldest sisters with a severe phenotype carried two maternal mutations V79M and P89A. However, the youngest sister with a milder course carried the paternal and only the V79M maternal mutation, due to an intragenic recombination.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas
/
Músculo Esquelético
/
Predisposición Genética a la Enfermedad
/
Distrofia Muscular de Cinturas
/
Mutación
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Brasil