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JIMD Reports, Volume 25

Overview of attention for book
JIMD Reports, Volume 25
Springer Berlin Heidelberg

Table of Contents

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    Book Overview
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    Chapter 421 Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.
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    Chapter 454 The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
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    Chapter 456 PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
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    Chapter 457 The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
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    Chapter 458 Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
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    Chapter 459 Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.
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    Chapter 461 Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
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    Chapter 462 New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria
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    Chapter 465 Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI
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    Chapter 466 Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson’s Disease
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    Chapter 467 Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis
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    Chapter 469 GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
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    Chapter 472 Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.
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    Chapter 480 Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia
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    Chapter 483 Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease
Attention for Chapter 459: Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.
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Chapter title
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.
Chapter number 459
Book title
JIMD Reports, Volume 25
Published in
JIMD Reports, June 2015
DOI 10.1007/8904_2015_459
Pubmed ID
Book ISBNs
978-3-66-249667-1, 978-3-66-249668-8
Authors

Rafiq, Jabin, Duno, Morten, Østergaard, Elsebet, Ravn, Kirstine, Vissing, Christoffer R, Wibrand, Flemming, Vissing, John, Jabin Rafiq, Morten Duno, Elsebet Østergaard, Kirstine Ravn, Christoffer R. Vissing, Flemming Wibrand, John Vissing, Vissing, Christoffer R.

Abstract

The most common clinical phenotype caused by a mtDNA mutation in complex I of the mitochondrial respiratory chain is Leber hereditary optic neuropathy. We report a family with a novel maternally inherited homoplasmic mtDNA m.4087A>G mutation in the ND1 gene (MT-ND1) associated with isolated myopathy, recurrent episodes of myoglobinuria, and rhabdomyolysis. DNA from blood in seven family members and muscle from four family members were PCR amplified and sequenced directly and assessed for the m.4087A>G variation in MT-ND1. Mitochondrial enzyme activity in all muscle biopsies was measured. PCR and direct sequencing of the MT-ND1 genes from blood showed that all seven family members were homoplasmic for the m.4087A>G mutation (NC_012920.1:c.781A>G). The mutation predicts a threonine to alanine substitution at position 261 (p.T261A). The same mutation was found in muscle of all four family members available for muscle biopsy, and biochemical analyses revealed an isolated complex I defect in muscle of all family members (range 22-52% of normal). Muscle morphology showed severe myopathic changes with internal nuclei in multiple fibers of all family members. Monosymptomatic myopathy with recurrent myoglobinuria is a rare phenotype of mitochondrial myopathies. We report this phenotype in a family affected by a novel homoplasmic mutation in MT-ND1. It is the first time such a phenotype has been associated with complex I gene mutations and a homoplasmic mutation of mtDNA.

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Mendeley readers

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The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 13 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 2 15%
Researcher 2 15%
Student > Ph. D. Student 1 8%
Student > Postgraduate 1 8%
Unknown 7 54%
Readers by discipline Count As %
Unspecified 2 15%
Biochemistry, Genetics and Molecular Biology 2 15%
Medicine and Dentistry 2 15%
Unknown 7 54%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 June 2015.
All research outputs
#15,338,777
of 22,815,414 outputs
Outputs from JIMD Reports
#347
of 544 outputs
Outputs of similar age
#154,152
of 263,898 outputs
Outputs of similar age from JIMD Reports
#4
of 7 outputs
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So far Altmetric has tracked 544 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 27th percentile – i.e., 27% of its peers scored the same or lower than it.
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We're also able to compare this research output to 7 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.