Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.

ABSTRACT:

Objective

To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the FKRP c.1387A>G mutation.

Methods

Standardized clinical data were collected for all patients known to the authors with c.1387A>G mutations in FKRP. Muscle biopsies were reviewed and used for histopathology, immunostaining, Western blotting, and DNA extraction. Genetic analysis was performed on extracted DNA.

Results

We report the clinical phenotypes of 6 patients homozygous for the c.1387A>G mutation in FKRP. Onset of symptoms was <2 years, and 5 of the 6 patients never learned to walk. Brain MRIs were normal. Cognition was normal to mildly impaired. Microarray analysis of 5 homozygous FKRP c.1387A>G patients revealed a 500-kb region o

SUBMITTER: Lee AJ 

PROVIDER: S-EPMC6454397 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature