A new congenital neuromuscular disease with trilaminar muscle fibers

S. P. Ringel, H. E. Neville, M. C. Duster, James Edwin Carroll

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

An infant was born with marked rigidity, a paucity of spontaneous movements, and increased serum creatine phosphokinase activity. Electromyogram was normal. A muscle biopsy, taken at the age of 7 weeks, contained numerous fibers composed of three concentric zones, warranting the designation “trilaminar fibers.” Electronmicroscopy showed the innermost zone contained a densely packed collection of mitochondria, glycogen, electron opaque material, and single filaments. The middle zone consisted of myofibrils with Z-band smearing. The outer zone resembled a sarcoplasmic mass. Extrajunctional acetylcholine receptor (AChR) was present in the trilaminar fibers between the middle and outer zones. The increased muscle tone and extrajunctional AChR suggest an altered neural nfluence, but the markedly increased creatine phosphokinase activity is more characteristic of muscle damage. Precise definition of the nature of the defect awaits further study.

Original languageEnglish (US)
Pages (from-to)282-289
Number of pages8
JournalNeurology
Volume28
Issue number3
StatePublished - Jan 1 1978
Externally publishedYes

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Neuromuscular Diseases
Cholinergic Receptors
Creatine Kinase
Muscle Hypertonia
Muscles
Myofibrils
Electromyography
Glycogen
Mitochondria
Electrons
Biopsy
Serum

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Ringel, S. P., Neville, H. E., Duster, M. C., & Carroll, J. E. (1978). A new congenital neuromuscular disease with trilaminar muscle fibers. Neurology, 28(3), 282-289.

A new congenital neuromuscular disease with trilaminar muscle fibers. / Ringel, S. P.; Neville, H. E.; Duster, M. C.; Carroll, James Edwin.

In: Neurology, Vol. 28, No. 3, 01.01.1978, p. 282-289.

Research output: Contribution to journalArticle

Ringel, SP, Neville, HE, Duster, MC & Carroll, JE 1978, 'A new congenital neuromuscular disease with trilaminar muscle fibers', Neurology, vol. 28, no. 3, pp. 282-289.
Ringel SP, Neville HE, Duster MC, Carroll JE. A new congenital neuromuscular disease with trilaminar muscle fibers. Neurology. 1978 Jan 1;28(3):282-289.
Ringel, S. P. ; Neville, H. E. ; Duster, M. C. ; Carroll, James Edwin. / A new congenital neuromuscular disease with trilaminar muscle fibers. In: Neurology. 1978 ; Vol. 28, No. 3. pp. 282-289.
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