BACKGROUND: Recessively inherited @entity14726 ( @entity14726 ) with @entity121 sparing was initially described only in Jews originating from the region of Persia. The recent identification of the gene responsible for this @entity121 and the common "Persian Jewish mutation" ( @entity70382 ) enabled the re-evaluation of atypical phenotypes and the epidemiology of @entity14726 in various communities in the Middle East. OBJECTIVE: To test for the @entity70382 mutation in the DNA from @entity14726 @entity1 in the Middle East. METHODS: DNA from all suspected @entity14726 @entity1 was tested for the @entity70382 mutation. Unaffected members of families with genetically proven @entity14726 were studied too. In the majority of families, haplotype construction with markers spanning the 700-kb region of the @entity14726 gene was performed. RESULTS: One hundred twenty-nine @entity14726 @entity1 of 55 families (Middle Eastern Jews, Karaites, and Arab Muslims of Palestinian and Bedouin origin) were homozygous for the @entity70382 mutation, and all carried the same haplotype. Five clinically unaffected subjects were also homozygous for the common mutation and haplotype, including two older adults (ages 50 and 68 years). Atypical features with this same mutation were marked @entity425 in five @entity1 , proximal weakness only in two @entity1 , @entity425 in three @entity1 , and a muscle biopsy showing @entity32 in one @entity1 . CONCLUSIONS: The phenotypic spectrum of recessive @entity14726 is wider than previously described, and the diagnostic criteria for this @entity121 must be changed. The Middle Eastern cluster is the result of a founder mutation, with incomplete penetrance, that is approximately 1,300 years old and is not limited to Jews.

Hereditary inclusion body XXXX : the Middle Eastern genetic cluster.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity32 :: ('MESH:D007249', 'Disease') :: ['perivascular inflammation'] @entity14726 :: ('MESH:C536816', 'Disease') :: ['hereditary inclusion body myopathy', 'HIBM'] @entity425 :: ('MESH:D018908', 'Disease') :: ['quadriceps weakness', 'facial weakness'] @entity70382 :: ('p|SUB|M|712|T', 'ProteinMutation') :: ['M712T'] @entity121 :: ('MESH:D009135', 'Disease') :: ['quadriceps', 'myopathy']
@entity121 :: (MESH:D009135,Disease) :: ['myopathy']
