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Title:

Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency.

Document type:
Case Reports; Journal Article; Article
Author(s):
Zimmer, C; Altenkirch, H; Dorfmüller-Küchlin, S; Pongratz, D; Paetzke, I; Gosztonyi, G
Abstract:
A 31-year-old woman developed an acute, potentially fatal rhabdomyolysis of undetermined origin. Muscle biopsy revealed selective lysis involving exclusively type 2a fibers. Myoadenylate-deaminase (MAD) deficiency was proven by a negative histochemical reaction as well as by an enzymatic biochemical determination. The significantly greater energetic dependence of type 2a fibres on MAD explains their selective damage. The patient's mother also suffers from a similar muscle disease of still unclar...     »
Journal title abbreviation:
J Neurol
Year:
1991
Journal volume:
238
Journal issue:
1
Pages contribution:
31-3
Language:
eng
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/2030369
Print-ISSN:
0340-5354
TUM Institution:
Fachgebiet Neuroradiologie (Prof. Zimmer)
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