Journal Article

Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1

Stella Mitrani-Rosenbaum, Zohar Argov, Anat Blumenfeld, Christine E. Seidman and J. G. Seidman

in Human Molecular Genetics

Volume 5, issue 1, pages 159-163
Published in print January 1996 | ISSN: 0964-6906
e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.1.159
Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1

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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 β-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. 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.

Journal Article.  2600 words.  Illustrated.

Subjects: Genetics and Genomics

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