Literature DB >> 6939255

Polysaccharide (amylopectin-like) storage myopathy histochemical ultrastructural and biochemical studies.

J F Pellissier, T de Barsy, J Bille, G Serratrice, M Toga.   

Abstract

A case of an adult polysaccharide myopathy is reported in a patient with progressive muscular atrophy and weakness of limb girdles. Histochemistry and electron microscopy showed in some muscle fibers, a storage material composed of amylopectin-like filaments. Biochemical results were normal and no enzyme deficiency was found. This case is compared with three other published cases. Pathological conditions with amylopectin or amylopectin-like storage material are reviewed.

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Year:  1981        PMID： 6939255     DOI： 10.1007/978-3-642-81553-9_84

Source DB:  PubMed          Journal:  Acta Neuropathol Suppl        ISSN： 0065-1435


  7 in total

Review 1.  Update on polyglucosan storage diseases.

Authors:  Giovanna Cenacchi; V Papa; R Costa; V Pegoraro; R Marozzo; M Fanin; C Angelini
Journal:  Virchows Arch       Date:  2019-07-30       Impact factor: 4.064

2.  Crystalloid bodies in skeletal muscle of hypothyroid myopathy. Ultrastructural and histochemical studies.

Authors:  K L Ho
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

3.  Intra-axonal polysaccharide deposits in the peripheral nerve seen in adult polysaccharide storage myopathy.

Authors:  O Komure; K Ichikawa; A Tsutsumi; K Hiyama; A Fujioka
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

4.  Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).

Authors:  J M Schröder; R May; Y S Shin; M Sigmund; S Nase-Hüppmeier
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

5.  Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.

Authors:  T T Tang; A D Segura; Y T Chen; L M Ricci; R A Franciosi; M L Splaingard; M S Lubinsky
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

6.  Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.

Authors:  Tara L Ward; Stephanie J Valberg; David L Adelson; Colette A Abbey; Matthew M Binns; James R Mickelson
Journal:  Mamm Genome       Date:  2004-07       Impact factor: 2.957

7.  Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.

Authors:  Bertrand Boisson; Emmanuel Laplantine; Carolina Prando; Silvia Giliani; Elisabeth Israelsson; Zhaohui Xu; Avinash Abhyankar; Laura Israël; Giraldina Trevejo-Nunez; Dusan Bogunovic; Alma-Martina Cepika; Donna MacDuff; Maya Chrabieh; Marjorie Hubeau; Fanny Bajolle; Marianne Debré; Evelina Mazzolari; Donatella Vairo; Fabrice Agou; Herbert W Virgin; Xavier Bossuyt; Caroline Rambaud; Fabio Facchetti; Damien Bonnet; Pierre Quartier; Jean-Christophe Fournet; Virginia Pascual; Damien Chaussabel; Luigi D Notarangelo; Anne Puel; Alain Israël; Jean-Laurent Casanova; Capucine Picard
Journal:  Nat Immunol       Date:  2012-10-28       Impact factor: 25.606
  7 in total

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