[Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients]. / Les aspects phénotypiques de la dystrophie musculaire de type 2I liée au gène FKRP dans une série de 11 patients.
Rev Neurol (Paris)
; 163(2): 189-96, 2007 Feb.
Article
em Fr
| MEDLINE
| ID: mdl-17351538
ABSTRACT
INTRODUCTION:
Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the fukutin related protein gene (FKRP gene). This study tries to evaluate clinical, biological and mutational characteristics of LGMD2I. PATIENTS ANDMETHODS:
Eleven patients belonging to 9 families from the North of France were selected. We reported demographic data, and results of muscular testing, cardiac, and respiratory examination, as well as the histopathological features of muscle tissue and a genetic analysis of FKRP gene for each patient.RESULTS:
There were 6 females and 5 males. Mean age at onset was 9.7 years old. Six had Duchenne like phenotype, 5 Becker like phenotype. Nine patients suffered from restrictive respiratory failure, two males had severe dilated cardiomyopathy. Ten patients had the common L276I mutation. Three mutations had not been previously identified L322V, L489R and R275G heterozygous mutations associated with the L276I mutation.CONCLUSION:
This study underlines inter and intra familial phenotypic variability in LGMD2I, preponderance of cardiomyopathy in males and restrictive respiratory insufficiency in female.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas
/
Distrofia Muscular do Cíngulo dos Membros
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
Fr
Ano de publicação:
2007
Tipo de documento:
Article