Department of Neurology, Northwestern University Medical School, Chicago, Illinois.
A case of non-progressive congenital myopathy is described in which there was absence of muscles and scapulo-peroneal distribution of weakness. The muscle biopsy showed preferential atrophy of Type I fibers and subsarcolemal bodies. These bodies were composed of an acidic protein with sulphahydryl groups which showed acid stable adenosine triphosphatase activity. The possibility of a maturational arrest as a cause is presented.
D000251:Adenosine Triphosphatases / Q000032:analysis; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008875:Middle Aged; D009124:Muscle Proteins / Q000032:analysis; D009132:Muscles / Q000032:analysis / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital* / Q000378:metabolism / Q000473:pathology; D013438:Sulfhydryl Compounds / Q000032:analysis
D009124:Muscle Proteins; D013438:Sulfhydryl Compounds; D000251:Adenosine Triphosphatases