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 ar...

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Bibliographic Details
Published in:Pediatric neurology 1995-05, Vol.12 (4), p.370-373
Main Authors: Waclawik, Andrew J., Edgar, Terence S., Lotz, Barend P., Lewandoski, Paul, Rust, Robert S.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biopsy
Cell Nucleus - pathology
Child
Diseases of striated muscles. Neuromuscular diseases
Humans
Male
Medical sciences
Mitochondrial Myopathies - congenital
Mitochondrial Myopathies - pathology
Myopathies, Nemaline - pathology
Neurology
Pedigree
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Summary: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.
ISSN:0887-8994
1873-5150
DOI:10.1016/0887-8994(95)00060-S