Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance-Reference-Cited by-同舟云学术

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

Published:2008-03 Issue:3 Volume:82 Page:652-660
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mochel Fanny,Knight Melanie A.,Tong Wing-Hang,Hernandez Dena,Ayyad Karen,Taivassalo Tanja,Andersen Peter M.,Singleton Andrew,Rouault Tracey A.,Fischbeck Kenneth H.,Haller Ronald G.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference30 articles.

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2. Hereditary abnormal muscle metabolism with hyperkinetic circulation during exercise;Linderholm;Acta Med. Scand.,1969

3. Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: A genealogical study;Drugge;J. Med. Genet.,1995

4. Low succinate dehydrogenase (SDH) activity in a patient with a hereditary myopathy with paroxysmal myoglobinuria;Linderholm;J. Intern. Med.,1990

5. Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect;Haller;J. Clin. Invest.,1991

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