Abstract
BackgroundDysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters.MethodsWe evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers.ResultsThirteen patients from 6 non-related families were included. Age of onset was 18.8 ± 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)).ConclusionsOur study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c. 3031 + 2T>C) suggested a possible founder effect.
Highlights
Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters
Dysferlin (DYSF) is a transmembrane protein linked to sarcolemmal repair mechanisms
9 patients were from three non-related families from Central Switzerland (Canton of Schwyz)
Summary
Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Dysferlin (DYSF) is a transmembrane protein linked to sarcolemmal repair mechanisms. Autosomal recessive mutations in the DYSF gene cause muscular dystrophies (MD): a limb girdle MD, the so-called LGMD 2B, with onset in the proximal lower limbs [1], and two distal MD, one initially affecting the gastrocnemius muscle during early adulthood, Miyoshi myopathy (MM) [2], and the other involving muscles of the anterior compartment (DMAT) [3]. Muscle weakness with pelvic girdle involvement on clinical examination distinguishes LGMD from MM. Other common phenotypes include a “proximo-distal” phenotype, characterized by simultaneous distal and proximal weakness onset [6]. A recent MRI study suggests that all patients have radiographic evidence of proximo-
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