Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance (Q24656037)

8

object named as

Andrew Singleton

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Peter M Andersen

7

object named as

Peter M Andersen

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Dena G. Hernandez

4

object named as

Dena Hernandez

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author name string

Fanny Mochel

1

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Melanie A Knight

2

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Wing-Hang Tong

3

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Karen Ayyad

5

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Tracey A Rouault

9

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Kenneth H Fischbeck

10

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Ronald G Haller

American Journal of Human Genetics

11

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language of work or name

English

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publication date

March 2008

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published in

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volume

82

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issue

3

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page(s)

652-60

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cites work

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Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis

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HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS

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Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect

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12 December 2020

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

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Hereditary abnormal muscle metabolism with hyperkinetic circulation during exercise

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Studies in succinate dehydrogenase histochemistry

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12 December 2020

Low succinate dehydrogenase (SDH) activity in a patient with a hereditary myopathy with paroxysmal myoglobinuria

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Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

18304497

1 reference