Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy.
A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.
Suwa
Kiyotaka
K
Department of Pediatrics, Jichi Medical School, Minamikawachi, Tochigi, Japan. kiyotaka@jichi.ac.jp
Mizuguchi
Masashi
M
Momoi
Mariko Y
MY
Nakamura
Minako
M
Arima
Kunimasa
K
Komaki
Hirofumi
H
Nonaka
Ikuya
I
D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D017696:Myopathies, Nemaline / Q000473:pathology* / Q000648:ultrastructure