Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00000019.xml
Fortschr Neurol Psychiatr 2011; 79(10): 598-606
DOI: 10.1055/s-0031-1281721
DOI: 10.1055/s-0031-1281721
Fort- und Weiterbildung
© Georg Thieme Verlag KG Stuttgart · New York
Metabolische Myopathien – Teil I: Störungen des Kohlehydratstoffwechsels
Metabolic Myopathies – Part I: Disorders of the Carbohydrate MetabolismFurther Information
Publication History
Publication Date:
11 October 2011 (online)

Lernziele
Diese Übersicht über metabolische Myopathien ist in 2 Teile gegliedert. Ziel dieses ersten Teiles ist es, einen kurzen Überblick über Ursache, Klinik, Diagnose und Therapie der wichtigsten metabolischen Myopathien, bedingt durch Störungen des Kohlehydratstoffwechsels, zu geben.
Literatur
- 1
DiMauro S, Garone C, Naini A.
Metabolic myopathies.
Curr Rheumatol Rep.
2010;
12
386-393
MissingFormLabel
- 2
Hermans M C, Pinto Y M, Merkies I S et al.
Hereditary muscular dystrophies and the heart.
Neuromuscul Disord.
2010;
20
479-492
MissingFormLabel
- 3
Dehnert C, Bärtsch P.
Diagnostik metabolischer Myopathien.
Dtsch Z Sportmed.
2005;
56
179-180
MissingFormLabel
- 4
Ørngreen M C, Jeppesen T D, Andersen S T et al.
Fat metabolism during exercise in patients with McArdle disease.
Neurology.
2009;
72
718-724
MissingFormLabel
- 5
Das A M, Steuerwald U, Illsinger S.
Inborn errors of energy metabolism associated with myopathies.
J Biomed Biotechnol.
2010;
2010
340 849
MissingFormLabel
- 6
Kazemi-Esfarjani P, Skomorowska E, Jensen T D et al.
A nonischemic forearm exercise test for McArdle disease.
Ann Neurol.
2002;
52
153-159
MissingFormLabel
- 7
Zilokowska-Graca B, Kania A, Zwolinska G et al.
Adult form of Pompe disease.
Pneumonol Alergol Pol.
2008;
76
396-399
MissingFormLabel
- 8
Ploeg A T, Clemens P R, Corzo van der D et al.
A randomized study of alglucosidase alfa in late-onset Pompe’s disease.
N Engl J Med.
2010;
362
1396-1406
MissingFormLabel
- 9
Kishnani P S, Goldenberg P C, DeArmey S L et al.
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease
infants.
Mol Genet Metab.
2010;
99
26-33
MissingFormLabel
- 10
Mendelsohn N J, Messinger Y H, Rosenberg A S et al.
Elimination of antibodies to recombinant enzyme in Pompe’s disease.
N Engl J Med.
2009;
360
194-195
MissingFormLabel
- 11
Parenti G.
Treating lysosomal storage diseases with pharmacological chaperones: from concept
to clinics.
EMBO Mol Med.
2009;
1
268-279
MissingFormLabel
- 12
Kotb M A, Abdallah H K, Kotb A.
Liver glycogenoses: are they a possible cause of polyneuropathy? A cross-sectional
study.
J Trop Pediatr.
2004;
50
196-202
MissingFormLabel
- 13
Mundy H R, Williams J E, Lee P J et al.
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle
and bone deficit.
J Inherit Metab Dis.
2008;
31
418-423
MissingFormLabel
- 14
Endo Y, Horinishi A, Vorgerd M et al.
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen
storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
J Hum Genet.
2006;
51
958-963
MissingFormLabel
- 15
Aoyama Y, Ozer I, Demirkol M et al.
Molecular features of 23 patients with glycogen storage disease type III in Turkey:
a novel mutation p.R 1147G associated with isolated glucosidase deficiency, along
with 9 AGL mutations.
J Hum Genet.
2009;
54
681-686
MissingFormLabel
- 16
Dagli A I, Zori R T, McCune H et al.
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification
of diet.
J Inherit Metab Dis.
2009;
32
1-4
MissingFormLabel
- 17
Nadaj-Pakleza A A, Vincitorio C M, Laforêt P et al.
Permanent muscle weakness in McArdle disease.
Muscle Nerve.
2009;
40
350-357
MissingFormLabel
- 18
Stojkovic T, Vissing J, Petit F et al.
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
N Engl J Med.
2009;
361
425-427
MissingFormLabel
- 19
Kollberg G, Tulinius M, Gilljam T et al.
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
N Engl J Med.
2007;
357
1507-1514
MissingFormLabel
- 20
Moslemi A R, Lindberg C, Nilsson J et al.
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
N Engl J Med.
2010;
362
1203-1210
MissingFormLabel
Josef Finsterer, MD, PhD
Postfach 20
1180 Wien
Österreich
Email: fifigs1@yahoo.de