Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy?
Histopathologic and ultrastructural findings in a muscle biopsy performed on an 11-year old boy with congenital hypotonia, weakness, respiratory insufficiency requiring chronic ventilatory support, and a probable X-linked inheritance are presented. The muscle biopsy disclosed a peculiar, ringlike arrangement of mitochondria and myonuclei in most muscle fibers. Accumulations of nemaline rods were present in approximately 10-15% of fibers. We believe that our patient represents a variant of myotubular/centronuclear myopathy. The histochemical findings suggest disturbance in developmental migration of nuclei and mitochondria probably due to impaired function of the cytoskeleton.
Waclawik
A J
AJ
Department of Neurology, University of Wisconsin Medical School, Madison, USA.
Edgar
T S
TS
Lotz
B P
BP
Lewandoski
P
P
Rust
R S
RS
D001706:Biopsy; D002467:Cell Nucleus / Q000473:pathology*; D002648:Child; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000151:congenital* / Q000473:pathology; D017696:Myopathies, Nemaline / Q000473:pathology*; D010375:Pedigree