Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.
A girl affected by a restrictive cardiomyopathy with neuromuscular involvement is described. Morphological examination showed a pattern of multicore myopathy and with electron microscopy a sarcoplasmic accumulation of electron dense granular and filamentous material was demonstrated both in skeletal muscle and heart. This peculiar electron dense material corresponded to increased desmin in muscle and cardiac fibres and was demonstrated immunohistochemically.
Bertini
E
E
Department of Metabolism, Bambino Gesu Hospital, Rome, Italy.
Bosman
C
C
Bevilacqua
M
M
Ricci
E
E
Gagliardi
G M
GM
Parisi
F
F
Servidei
S
S
Dionisi-Vici
C
C
Ballerini
L
L
D000293:Adolescent; D002313:Cardiomyopathy, Restrictive / Q000150:complications* / Q000473:pathology; D003893:Desmin / Q000378:metabolism / Q000648:ultrastructure; D004452:Echocardiography; D005260:Female; D006801:Humans; D007382:Intermediate Filaments / Q000648:ultrastructure*; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications* / Q000473:pathology
D003893:Desmin