Iranian clinicians and biologists report the results of genotyping 2,009 individuals with various neuromuscular diseases (including spastic paraplegia and hereditary ataxia):
- patients were recruited from across the country and genetic studies were centralised in Tehran over an 11-year period,
- the techniques used included, as appropriate, neuromuscular gene panels, whole exomes and MLPA (to detect PMP22 gene duplication),
- the overall diagnostic yield was 46% (including panels and exomes, excluding MLPA).
- The authors highlight the high frequency of dystrophinopathies, calpainopathies and dysferlinopathies, as well as the numerous cases of myopathies linked to the GNE and ETFDH genes, and cases of CMT1A.
This work demonstrates the expertise acquired by Iranian teams in genotyping.
