TY - JOUR
T1 - A new congenital neuromuscular disease with trilaminar muscle fibers
AU - Ringel, S. P.
AU - Neville, H. E.
AU - Duster, M. C.
AU - Carroll, James Edwin
PY - 1978/1/1
Y1 - 1978/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0018131239&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0018131239&partnerID=8YFLogxK
M3 - Article
C2 - 564483
AN - SCOPUS:0018131239
SN - 0028-3878
VL - 28
SP - 282
EP - 289
JO - Neurology
JF - Neurology
IS - 3
ER -