Familial neuromuscular disease with tubular aggregates.
We have studied four members of a family in which five individuals of both sexes in three generations have mild weakness and muscle aching. Serum creatine kinase (CK) and/or aldolase were mildly to moderately elevated. Tubular aggregates were present in all patients in all fiber types. Type 1 fiber predominance and type 2 hypotrophy or atrophy was noted in three biopsies. Fiber splitting was prominent in two cases. Electron microscopic studies confirm that the tubular aggregates originate from muscle sarcoplasmic reticulum (SR). The presence of T tubules making contacts with some tubules inside the collection of tubular aggregates is suggestive of their derivation from terminal cisternae.
Pierobon-Bormioli
S
S
National Research Council Unit for Muscle Biology and Physiopathology, Institute of General Pathology, University of Padova-ltalia.
Armani
M
M
Ringel
S P
SP
Angelini
C
C
Vergani
L
L
Betto
R
R
Salviati
G
G
D000293:Adolescent; D000328:Adult; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D008875:Middle Aged; D009124:Muscle Proteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D020914:Myopathies, Structural, Congenital / Q000209:etiology* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009218:Myosins / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology
D009124:Muscle Proteins; D009218:Myosins