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Biomedical subjects

C Imoto

Publications and source records attributed to C Imoto.

5 recordsLinked to original sources
PubMed2001

The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders.

To determine the incidence of selective type 1 fiber atrophy (hypotrophy) and its possible significance in various muscle diseases of childhood, we reviewed 2212 muscle biopsies from children which we had examined in the past 20 years histochemically with ATPase staining. Type 1 fiber atrophy was seen in a variety of neuromuscular disorders, but predominantly in congenital myopathies, including all patients with congenital fiber type disproportion myopathy (20 patients), central core disease (12 patients) and multicore disease (four patients). Although type 1 fiber atrophy was not a constant feature in nemaline myopathy and myotubular myopathy, all patients with these diseases had abnormal fiber type distribution which included type 1 fiber predominance both with and without type 2B fiber deficiency. Together with abnormal fiber type distribution, type 1 fiber atrophy was a common finding in childhood neuromuscular disorders, especially congenital myopathies.

Atrophy↗
PubMed2000

A novel congenital myopathy with apoptotic changes.

We report on a female child with congenital myopathy with delayed developmental milestones and mental retardation. The most striking pathological finding was the presence of many condensed to fragmented myonuclei. DNA fragmentation was confirmed by the TUNEL method and supported by the ultrastructural characteristics of apoptotic nuclear changes. We also demonstrated immunohistochemically the activation of caspase-3 and caspase-9. This appears to be the first reported case of congenital myopathy with apoptotic process.

Apoptosis↗
PubMed1999

Nebulin is normally expressed in nemaline myopathy.

Since the nebulin gene is located in the candidate gene locus of autosomal recessive nemaline myopathy, 2q21.2-q22, we examined five muscle biopsy specimens with monoclonal and polyclonal antibodies against nebulin in combination with the modified Gomori trichrome stain. We were able to demonstrate immunohistochemically that there was no abnormality in nebulin in the muscle fibers both with and without nemaline bodies. Although the molecular weight of nebulin was normal, it was slightly reduced in amount on immunoblotting.

Humans↗
PubMed1997

Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance.

A 12-month-old girl with delayed developmental milestones, due to muscle hypotonia and weakness from early infancy, exhibited type 2 fiber hypoplasia. A muscle biopsy specimen disclosed type 1 fiber predominance and type 2B fiber deficiency compatible with congenital myopathy. During the following 4 years, she continued to have mild muscle weakness, but no mental retardation. Her mother had similar symptoms from early infancy with minimal progression. Although type 2 fiber hypoplasia is a non-specific finding in various diseases, it may be a specific finding in a limited number of patients with hereditary congenital non-progressive myopathy.

Adult↗