caa a22 4500 397573499 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.159 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.159 Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1 [Elektronische Daten] [Stella Mitrani-Rosenbaum, Zohar Argov, Anat Blumenfeld, Christine E. Seidman, J. G. 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 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. © 1996 Oxford University Press Mitrani-Rosenbaum Stella Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA aut Argov Zohar Department of Neurology, The Hebrew University-Hadassah Medical School, Jerusalem, Israel aut Blumenfeld Anat Unit for Development of Molecular Biology and Genetic Engineering, The Hebrew University-Hadassah Medical School, Jerusalem, Israel aut Seidman Christine E. Departement of Medicine and Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA aut Seidman J. G. Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 159-163 0964-6906 5:1<159 1996 5 hmg https://doi.org/10.1093/hmg/5.1.159 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.159 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mitrani-Rosenbaum Stella Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA aut NATIONALLICENCE 700 1- Argov Zohar Department of Neurology, The Hebrew University-Hadassah Medical School, Jerusalem, Israel aut NATIONALLICENCE 700 1- Blumenfeld Anat Unit for Development of Molecular Biology and Genetic Engineering, The Hebrew University-Hadassah Medical School, Jerusalem, Israel aut NATIONALLICENCE 700 1- Seidman Christine E. Departement of Medicine and Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA aut NATIONALLICENCE 700 1- Seidman J. G. Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 159-163 0964-6906 5:1<159 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford