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I‐Z‐I complexes in congenital myopathy
Author(s) -
Rhodes Roy H.,
Sharer Leroy R.
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21575
Subject(s) - congenital myopathy , muscle hypotonia , myopathy , myogenesis , hypotonia , muscle biopsy , medicine , lesion , pathology , myocyte , biopsy , skeletal muscle , anatomy , pediatrics
A 3‐month‐old boy with hypotonia at birth succumbed to a congenital myopathy. The major finding in his muscle biopsy corresponded to I‐Z‐I complexes described previously in embryonic skeletal muscle. A few previous myopathy cases have described findings suggestive of I‐Z‐I–like complexes. A mutation affecting mononuclear myoblasts or early myotubes was suspected, although an acquired lesion could not be ruled out. The findings may also have been altered by secondary events in this unusual case. Muscle Nerve, 2010