Abstract
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.
Keywords
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References
- Muscle biopsy. A practical approach. 2nd ed. Bailliere Tindall, London1985
- Muscle fiber types: how many and what kind?.Arch Neurol. 1970; 23: 369-379
- The histographic analysis of human muscle biopsies with regard to fiber types.4. Childrens biopsies. Neurology. 1969; 19: 591-605
- The diversity of muscle fiber types and its origin during development.in: Engel A.G. Franzini-Armstrong C. Mycology. 1994: 119-133
- Congenital myopathies.in: Engel A.G. Franzini-Armstrong C. Myology. 2nd ed. McGraw-Hill, New York1994: 1487-1532
- Muscle fiber atrophy and degeneration induced by experimental immobility and hindlimb suspension.Int J Sports Med. 1997; 18: s292-s294
- A mutation in the human ryanodine receptor gene associated with central core disease.Nat Genet. 1993; 5: 46-49
- Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.Nat Genet. 1993; 5: 51-55
- A mutation in the α tropomyosin gene TPM3associated with autosomal dominant nemaline myopathy.Nat Genet. 1995; 9: 75-79
- Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.Proc Natl Acad Sci U.S.A. 1999; 96: 2305-2310
- A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.Nat Genet. 1996; 13: 175-182
Article info
Publication history
Accepted:
March 29,
2001
Received in revised form:
March 12,
2001
Received:
June 19,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
