Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man-Reference-Cited by-同舟云学术

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Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

Published:2014-08-30 Issue:4 Volume:50 Page:610-613
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Lahoria Rajat¹,Winder Thomas L.²,Lui Jie²,Al-Owain Mohammed A.³⁴,Milone Margherita¹

Affiliation:

1. Department of Neurology; Mayo Clinic; 200 First Street SW Rochester Minnesota 55905 USA

2. PreventionGenetics; Marshfield Wisconsin USA

3. Department of Medical Genetics; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

4. Department of Anatomy and Cell Biology; College of Medicine, Alfaisal University; Riyadh Saudi Arabia

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.24302/fullpdf

Reference16 articles.

1. ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins;Duran;Am J Physiol Cell Physiol,2012

2. The TMEM16 protein family: a new class of chloride channels?;Galietta;Biophys J,2009

3. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

4. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy;Hicks;Brain,2011

5. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5;Penttila;Neurology,2012

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1. Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases;Journal of Inherited Metabolic Disease;2024-08-12

2. Amyloid Myopathy: A Cunning Masquerader;Cureus;2023-05-27

3. Metabolic Myopathies;CONTINUUM: Lifelong Learning in Neurology;2022-12

4. Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review;Genes;2022-09-27

5. Recent advances in our understanding of genetic rhabdomyolysis;Current Opinion in Neurology;2022-08-08

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