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Various types of herediary inclusion body myopathies map to chromosome 9p1‐q1
Author(s) -
Argov Zohar,
Tirman Efrat,
Eisenberg Iris,
Sadeh Menahem,
Siedman Christine E.,
Siedman J. G.,
Karpati George,
MitraniRosenbaum Stella
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410410419
Subject(s) - locus (genetics) , genetics , myopathy , autosomal recessive trait , biology , disease , genetic linkage , gene mapping , gene , chromosome , pathology , medicine
Hereditary inclusion body myopathies are a clinically heterogeneous group of disorders characterized by adult‐onset, slowly progressive muscle weakness and typical histopathology: rimmed vacuoles and filamentous inclusions. The disorders are usually inherited as an autosomal recessive trait. The gene responsible for the disease found in Iranian Jews, who present wih quadriceps‐sparing myopathy, maps to chromosome 9p1‐q1. We address the question of whether hereditary inclusion myopathies are genetically as well as clinically heterogeneous disorders. We mapped the disease gene segregating in two families of Afghani‐Jewish and one family of Iraqi‐Jewish descent to the chromosome 9 locus. Similarly, the disease gene segregating in a non‐Jewish family from India mapped to the same locus. By contrast, the disease gene segregating in a French‐Canadian family in which affected individuals had central nervous system involvement as well as hereditary inclusion body myopathy, did not map to this locus. We conclude that many but not all forms of autosomal recessive hereditary inclusion body myopaty are caused by a gene defect that maps to chromosome 9p1‐q1.