Hereditary inclusion body myopathy maps to chromosome 9p1-q1

Hereditary inclusion body myopathy (HIBM) is a unique disorder of unknown etiology that typically oc-curs in individuals of Persian Jewish descent. Distin-guishing features of the disorder from other limb girdle myopathies include elderly age of onset, ethnic predis-position, and sparing of the quadriceps despite severe involvement of all other proximal leg muscles. In-volved muscles demonstrate fibers with rimmed va-cuoles and filamentous cytoplasmic and nuclear inclusions. Additional histological features are accu-mulations of β-amyloid protein and the absence of in-flammatory cells. To identify the chromosomal location of the gene responsible for HIBM, nine Persian Jewish families with HIBM were evaluated. Genome-wide linkage analyses identified the recessive IBM locus on chromosome 9 band p1-q1 (maximum lod score at D9S166 = 5.32, θ = 0.0). This region contains the Friedreich’s Ataxia gene, raising the possiblility that HIBM may be a related neurogenic disorder