A positive lod score of 3.01 was obtained which is the highest lod score by simulate test. Several candidate genes from the mapping region are being screened for mutations. The LGMD is a clinically and genetically heterogeneous group of disorders, one new variant of LGMD was described in 1990 by professor Lars Edstr m. Muscle biopsy revealed plaques in the fibres stained strongly with rhodamine-conjugated phalloidin. A whole genome-wide search is now performed for such families in order to map the disease locus.
Muscle biopsy from a patient with limb-girdle syndrome.
From Edstr m,Thornell et al . The disorder is considered as the most common of the distal myopathies but is almost only seen in Sweden. The region of interest is restricted by a common shared haplotype through all families, which supports the notion of a common founder effect. Candidate genes in the region are analysed for mutations in the WDM families. It is a multisystemic disease with an extremely variable presentation.