Key result
Genetic mapping demonstrated linkage between XMEA and markers on chromosome Xq28, assigning the locus to the most telomeric 10.5 cM of chromosome X, and showed XVCM-MR is not allelic to XMEA.
Population
Patients or families with X-linked vacuolar myopathies (XVCM-MR and XMEA)
Design
Other
Authors
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Refines X-linked myopathy classification for differential diagnosis; leaves open the causative gene and clinical translation.
Observational
This study maps the genetic locus for XMEA to chromosome Xq28 and establishes that it is genetically distinct from XVCM-MR, a related myopathy associated with cardiomyopathy.
Auranen et al. (2000) conducted an observational in X-linked vacuolar myopathies. Genetic mapping was evaluated on Genetic linkage and locus assignment. Genetic mapping demonstrated linkage between XMEA and markers on chromosome Xq28, assigning the locus to the most telomeric 10.5 cM of chromosome X, and showed XVCM-MR is not allelic to XMEA.
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