Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
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DOI: 10.1212/nxg.0000000000000315
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… read more here.
Keywords: pathology; founder mutation; patients homozygous; fkrp 1387a ... See more keywords