A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis-The Austrian experience-Reference-Cited by-同舟云学术

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis-The Austrian experience

Published:2015-07-24 Issue:3 Volume:52 Page:437-439
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Pichler Karin¹,Scholl-Buergi Sabine¹,Birnbacher Robert²,Freilinger Michael³,Straub Simon¹,Brunner Jürgen¹,Zschocke Johannes⁴,Bittner Reginald E.⁵,Karall Daniela¹

Affiliation:

1. Department of Pediatrics; Clinic for Pediatrics I, Medical University of Innsbruck; Anichstrasse 35 A-6020 Innsbruck Austria

2. Department of Pediatrics; General Hospital Villach; Villach Austria

3. Department of Pediatrics and Adolescent Medicine; Medical University Vienna; Vienna Austria

4. Institute of Human Genetics, Medical University of Innsbruck; Innbruck Austria

5. Center for Anatomy and Cell Biology; Department of Applied Anatomy; Medical University of Vienna; Vienna Austria

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.24749/fullpdf

Reference6 articles.

1. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood;Zeharia;Am J Hum Genet,2008

2. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood;Michot;Hum Mutat,2010

3. Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood;Lonlay-Debeney;Neuropediatrics,1999

4. Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts;Michot;Biochim Biophys Acta,2013

5. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia;Michot;J Inherit Metab Dis,2012

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1. Case report: Rhabdomyolysis in children in acute and chronic disease—a challenging condition in pediatric emergency medicine;Frontiers in Pediatrics;2023-03-09

2. Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients;Journal of Inherited Metabolic Disease;2023-02-03

3. A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre;Neuromuscular Disorders;2022-09

4. LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations;Molecular Genetics and Metabolism Reports;2022-03

5. Disorders of Intracellular Triglyceride and Phospholipid Metabolism;Inborn Metabolic Diseases;2022