Human Molecular Genetics, Vol 5, 159-163, Copyright © 1996 by Oxford University Press
S Mitrani-Rosenbaum, Z Argov, A Blumenfeld, CE Seidman and JG Seidman
Hereditary inclusion body myopathy (HIBM) is a unique disorder of unknown
etiology that typically occurs in individuals of Persian Jewish descent.
Distinguishing features of the disorder from other limb girdle myopathies
include elderly age of onset, ethnic predisposition, and sparing of the
quadriceps despite severe involvement of all other proximal leg muscles.
Involved muscles demonstrate fibers with rimmed vacuoles and filamentous
cytoplasmic and nuclear inclusions. Additional histological features are
accumulations of beta-amyloid protein and the absence of inflammatory
cells. To identify the chromosomal location of the gene responsible for
HIBM, nine Persian Jewish families with HIBM were evaluated. Genomewide
linkage analyses identified the recessive IBM locus on chromosome 9 band
p1-q1 (maximum lod score at D9S166 = 5.32, theta = 0.0). This region
contains the Friedreich's Ataxia gene, raising the possibility that HIBM
may be a related neurogenic disorder.
ARTICLES
Hereditary inclusion body myopathy maps to chromosome 9p1-q1
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
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