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Glycogen debrancher deficiency is reproduced in muscle culture
Author(s) -
Miranda Armand F.,
DiMauro Salvatore,
Antler Adriane,
Rowland Lewis P.,
Stern Lawrence Z.
Publication year - 1981
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410090311
Subject(s) - glycogen debranching enzyme , glycogen phosphorylase , glycogen , medicine , endocrinology , myopathy , glycogen synthase , glycogen storage disease , isozyme , biology , myocyte , fetus , enzyme , biochemistry , pregnancy , genetics
Muscle cultured from two adults with debrancher deficiency myopathy showed abnormal glycogen deposits by electron microscopy. Glycogen debranching activity was markedly decreased, but phosphorylase activity was normal. Lack of glycogen debraching acstivity in muscle cultures from debrancher‐deficient patients contrasts with the presence of a fetal isoenzyme of phosphorylase in muscle cultured from patients with McArdle disease and suggests that the genetic control of the debraching enzyme does not change during muscle development.