Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance.
We report a family in which four members in two generations (mother, her son, and two daughters) suffered from impaired muscle relaxation aggravated by exercise. Muscle biopsies from two sisters showed moderate degree of histochemical type 2 fiber atrophy and excess of internal nuclei. Microscopic immunocytochemistry, using a monoclonal antibody raised against purified chicken SR-ATPase, revealed severe reduction of the immunoreactive ATPase of SR was markedly decreased on Western blots of muscle proteins. This family appears to have a clinically, electromyographically, and biochemically distinct metabolic myopathy associated with deficiency of SR-ATPase, with a probable autosomal dominant inheritance pattern that is phenotypically similar to recently described recessive cases.
Danon
M J
MJ
Department of Neurology, University of Illinois College of Medicine, Chicago 60612.
Karpati
G
G
Charuk
J
J
Holland
P
P
D000251:Adenosine Triphosphatases / Q000172:deficiency*; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006651:Histocytochemistry; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009126:Muscle Relaxation; D009132:Muscles / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D010375:Pedigree; D005082:Physical Exertion; D012519:Sarcoplasmic Reticulum / Q000201:enzymology*
D000251:Adenosine Triphosphatases