Key result
M712T founder mutation demonstrates incomplete penetrance and wider phenotypic spectrum in hereditary inclusion body myopathy.
Why the study?
The phenotypic spectrum and epidemiology of hereditary inclusion body myopathy (HIBM) in Middle Eastern populations beyond Persian Jews were not fully characterized.
Comparison
DNA testing for M712T mutation in affected and unaffected family members
Design
Observational genetic study with haplotype construction
Authors
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Broader M712T screening in Middle Eastern HIBM may refine diagnosis; extends founder effect to non-Jewish populations with incomplete penetrance.
Observational (n=134)
The M712T mutation causing hereditary inclusion body myopathy is a founder mutation in the Middle East with incomplete penetrance and a wider phenotypic spectrum than previously recognized.
Argov et al. (2003) conducted an observational in Hereditary inclusion body myopathy (HIBM) (n=134). M712T mutation was evaluated on Homozygosity for the M712T mutation and haplotype. The M712T founder mutation was identified in 129 Middle Eastern patients with hereditary inclusion body myopathy, demonstrating a wider phenotypic spectrum and incomplete penetrance.
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