Literature DB >> 17106730

[Polyglycosan body myopathy].

M Jeub1, K Kappes-Horn, C Kornblum, D Fischer.   

Abstract

We report two patients with polyglycosan body disease manifesting in adulthood. Clinical, electrophysiological, and histopathological characteristics of their disorders are summarized, and diagnostic classification is discussed.

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Year:  2006        PMID： 17106730     DOI： 10.1007/s00115-006-2184-x

Source DB:  PubMed          Journal:  Nervenarzt        ISSN： 0028-2804            Impact factor:   1.214


  23 in total

1.  Glycogenosis. IV. A new cause of infantile hypotonia.

Authors:  H Zellweger; S Mueller; V Ionasescu; S S Schochet; W F McCormick
Journal:  J Pediatr       Date:  1972-05       Impact factor: 4.406

2.  Type 3 glycogenosis. An adult with diffuse weakness and muscle wasting.

Authors:  J A Brunberg; W F McCormick; S S Schochet
Journal:  Arch Neurol       Date:  1971-08

3.  A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy.

Authors:  S Nase; K P Kunze; M Sigmund; J M Schroeder; Y Shin; P Hanrath
Journal:  Eur Heart J       Date:  1995-11       Impact factor: 29.983

4.  Nervous system involvement in type IV glycogenosis.

Authors:  K R McMaster; J M Powers; G R Hennigar; H J Wohltmann; G H Farr
Journal:  Arch Pathol Lab Med       Date:  1979-03       Impact factor: 5.534

5.  A mild adult myopathic variant of type IV glycogenosis.

Authors:  A Bornemann; R Besser; Y S Shin; H H Goebel
Journal:  Neuromuscul Disord       Date:  1996-03       Impact factor: 4.296

6.  Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Authors:  C Bruno; S Servidei; S Shanske; G Karpati; S Carpenter; D McKee; R J Barohn; M Hirano; Z Rifai; S DiMauro
Journal:  Ann Neurol       Date:  1993-01       Impact factor: 10.422

7.  Polyglucosan body disease simulating amyotrophic lateral sclerosis.

Authors:  T D McDonald; P L Faust; C Bruno; S DiMauro; J E Goldman
Journal:  Neurology       Date:  1993-04       Impact factor: 9.910

8.  Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome.

Authors:  Christopher J Klein; Christopher J Boes; John E Chapin; Christopher D Lynch; Norbert G Campeau; P James B Dyck; Peter J Dyck
Journal:  Muscle Nerve       Date:  2004-02       Impact factor: 3.217

9.  Clinical varieties of neuromuscular disease in debrancher deficiency.

Authors:  F Cornelio; N Bresolin; P A Singer; S DiMauro; L P Rowland
Journal:  Arch Neurol       Date:  1984-10

10.  Mutational analysis of the AGL gene: five novel mutations in GSD III patients.

Authors:  S Lucchiari; M A Donati; D Melis; M Filocamo; R Parini; N Bresolin; G P Comi
Journal:  Hum Mutat       Date:  2003-10       Impact factor: 4.878
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  3 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.  A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Authors:  Edoardo Malfatti; Johanna Nilsson; Carola Hedberg-Oldfors; Aurelio Hernandez-Lain; Fabrice Michel; Cristina Dominguez-Gonzalez; Gabriel Viennet; H Orhan Akman; Cornelia Kornblum; Peter Van den Bergh; Norma B Romero; Andrew G Engel; Salvatore DiMauro; Anders Oldfors
Journal:  Ann Neurol       Date:  2014-10-31       Impact factor: 10.422

3.  Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy.

Authors:  Rebeka Roza Zsoldos; Negar Khayatzadeh; Johann Soelkner; Ulrike Schroeder; Caroline Hahn; Theresia Franziska Licka
Journal:  J Anim Physiol Anim Nutr (Berl)       Date:  2021-02-20       Impact factor: 2.718
  3 in total

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