-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.

Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as one in 20,000. In contrast, the prevalence of other CDG types remains unknown.