Screening for XXXX in @entity4346 : Documentation of a Novel Mutation.

@entity2315 @entity1 @entity71165 @entity101 @entity7791 @entity60874 @entity2314 @entity4346 @entity472 @entity10153
BACKGROUND: @entity2314 is a @entity2315 caused by @entity2314 as a result of mutations in the @entity10153 gene. Cardiac involvement is characterized by progressive @entity4346 . OBJECTIVE: To estimate the prevalence of @entity2314 in a population with @entity4346 . METHODS: The @entity1 were assessed for the presence of @entity4346 as a left ventricular mass index >=  96 g/m2 for @entity1 or >=  116 g/m2 for @entity1 . Severe @entity472 and @entity101 with mild @entity4346 were exclusion criteria. All @entity1 included were assessed for enzyme a-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. RESULTS: A total of 47 @entity1 with a mean left ventricular mass index of 141.1 g/m2 (   28.5; 99.2 to 228.5 g/m2] were included. Most of the @entity1 were females (51.1%). Nine (19.1%) showed @entity7791 A activity, but only one positive genetic test - [ @entity10153 ] @entity60874 ; @entity71165 (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. CONCLUSION: In a population of @entity1 with @entity4346 , we documented a @entity2314 prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the @entity10153 gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for @entity2314 - [ @entity10153 ] @entity60874 ; @entity71165 (exon 5).
