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Nutrition: Calcium

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Total 268 results found since Jan 2013.

Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India
This report expands the clinico-radiological presentation and to the best of our knowledge, is the first report of MICU-related MPXPS from India.
Source: Annals of Indian Academy of Neurology - January 25, 2023 Category: Neurology Authors: Debaleena Mukherjee Adreesh Mukherjee Subhadeep Gupta Souvik Dubey Alak Pandit Source Type: research

BAFF Expression Correlates with Idiopathic Inflammatory Myopathy Disease Activity Measures and Autoantibodies.
CONCLUSION: These findings highlight the potential importance of BAFF, ΔBAFF, and BAFF-R in the pathogenesis of IIM, and suggest an important role in the assessment of disease activity. PMID: 23322463 [PubMed - as supplied by publisher]
Source: J Rheumatol - January 15, 2013 Category: Rheumatology Authors: De Padilla CM, McNallan KT, Crowson CS, Bilgic H, Bram RJ, Hein MS, Ytterberg SR, Amin S, Peterson EJ, Baechler EC, Reed AM Tags: J Rheumatol Source Type: research

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy
We report on a patient with LGMD2L and HMGCR-associated IMNM without previous statin exposure.
Source: Neurology - September 2, 2013 Category: Neurology Authors: Claeys, K. G., Gorodinskaya, O., Handt, S., Reimann, J., Kress, W., Kornblum, C., Kuhl, C., Schulz, J. B., Weis, J. Tags: MRI, Autoimmune diseases, All Clinical Neurology, Muscle disease, All Genetics CLINICAL/SCIENTIFIC NOTES Source Type: research

P.4.10 Exon skipping as a therapeutic strategy applied to a RyR1 mutation causing severe core myopathy
This study is the first demonstration of the potential of exon skipping for the therapy of Central Core Disease, from the molecular to the functional level.
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: J. Rendu, J. Brocard, N. Monnier, F. Piétri-Rouxel, L. Garcia, J. Lunardi, J. Fauré, A. Fourest-Lieuvin, I. Marty Source Type: research

Episodic weakness and vacuolar myopathy in hypokalemic periodic paralysis
We report a 50-year-old woman who presented with a 20year history of gradually progressive lower extremity weakness, characterized by knee buckling with occasional falls and foot dragging. She also experienced difficulty in lifting her arms above her shoulders. The primary periodic paralyses are rare disorders caused by dysfunctional ion channels in skeletal muscle. The hypokalemic type is generally an autosomal dominant condition, due to missense mutations in the alpha subunits of the skeletal muscle L-type calcium channel genes, CACN1AS, or the skeletal muscle sodium channel gene, SCN4A. The affected patients typically p...
Source: Journal of Clinical Neuroscience - July 17, 2015 Category: Neuroscience Source Type: research

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016
Seventeen clinicians and basic scientists from 7 countries, as well as 4 patient representatives, gathered for the 217th ENMC International Workshop on RYR1-related Myopathies on 29–31 January 2016 in Naarden, The Netherlands. The skeletal muscle ryanodine receptor (RYR1) gene encodes the principal sarcoplasmic reticulum (SR) calcium release channel (RyR1) with a crucial role in excitation–contraction coupling (ECC). Over the last decade, dominant and, more recently, recessive RYR1 mutations have emerged as the most common cause of non-dystrophic inherited neuromuscular disorders, including various congenital myopathie...
Source: Neuromuscular Disorders - June 6, 2016 Category: Neurology Authors: Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni, RYR1 Myopathy Consortium Tags: Workshop report Source Type: research

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29 –31 January 2016
Seventeen clinicians and basic scientists from 7 countries, as well as 4 patient representatives, gathered for the 217th ENMC International Workshop on RYR1-related Myopathies on 29 –31 January 2016 in Naarden, The Netherlands. The skeletal muscle ryanodine receptor (RYR1) gene encodes the principal sarcoplasmic reticulum (SR) calcium release channel (RyR1) with a crucial role in excitation–contraction coupling (ECC). Over the last decade, dominant and, more recently, reces sive RYR1 mutations have emerged as the most common cause of non-dystrophic inherited neuromuscular disorders, including various congenital myopath...
Source: Neuromuscular Disorders - June 6, 2016 Category: Neurology Authors: Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni, RYR1 Myopathy Consortium Tags: Workshop report Source Type: research

Ischemic myopathy revealing systemic calciphylaxis
This article is protected by copyright. All rights reserved.
Source: Muscle and Nerve - December 8, 2016 Category: Internal Medicine Authors: Jessie Aouizerate, Laurence Valleyrie ‐Allanore, Nicolas Limal, S. Samar Ayache, Romain K. Gherardi, Vincent Audard, François Jérôme Authier Tags: Research Article Source Type: research

Dihydropyridine receptor (DHPR, CACNA1S ) congenital myopathy
We describe a cohort of 11 patients from 7 families presenting with perinatal hypotonia, severe axial and generalized weakness. Ophthalmoplegia is present in four patients. The analysis of muscle biopsies demonstrated a characteristic intermyofibrillar network due to SR dilatation, internal nuclei, and areas of myofibrillar disorganization in some samples. Exome sequencing revealed ten recessive or dominant mutations inCACNA1S (Cav1.1), the pore-forming subunit of DHPR in skeletal muscle. Both recessive and dominant mutations correlated with a consistent phenotype, a decrease in protein level, and with a major impairment o...
Source: Acta Neuropathologica - December 22, 2016 Category: Neurology Source Type: research

Congenital myopathy associated with the triadin knockout syndrome
Conclusions: Absence of triadin in humans can result in a congenital myopathy associated with profound pathologic alterations in components of the sarcoplasmic reticulum. Why only some triadin-deficient patients develop a skeletal muscle phenotype remains an unsolved question.
Source: Neurology - March 19, 2017 Category: Neurology Authors: Engel, A. G., Redhage, K. R., Tester, D. J., Ackerman, M. J., Selcen, D. Tags: Muscle disease ARTICLE Source Type: research

Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice
Maintenance of muscle structure and function depends on the precise organization of contractile proteins into sarcomeres and coupling of the contractile apparatus to the sarcoplasmic reticulum (SR), which serves as the reservoir for calcium required for contraction. Several members of the Kelch superfamily of proteins, which modulate protein stability as substrate-specific adaptors for ubiquitination, have been implicated in sarcomere formation. The Kelch protein Klhl31 is expressed in a muscle-specific manner under control of the transcription factor MEF2. To explore its functions in vivo, we created a mouse model of Klhl...
Source: Journal of Clinical Investigation - September 5, 2017 Category: Biomedical Science Authors: James B. Papizan, Glynnis A. Garry, Svetlana Brezprozvannaya, John R. McAnally, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson Source Type: research

Calreticulin mutation in a case of myopathy
Awareness of the genetic variants of human skeletal myopathies has grown, it has become noticeable that many muscle disorders fall into categories based on the fact that they primarily involve alterations of one of these structures. Study of muscle diseases by substructural calcium homeostasis is useful in terms of understanding disease pathogenesis and eventually for therapy development. Several genetic variants were known linked with diverse myopathy as well as ryanodine receptor 1 (RYR1) related to malignant hyperthermia (MH).
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: S. Sampaolo, D. de Lucia, l. Lombardi, S. Casertano, F. Rossi, M. Fratta, R. Di Francia, G. Di Iorio Source Type: research

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Muscle contraction upon nerve stimulation relies on excitation –contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the direct coupling of a voltage-gated L-type Ca2+ channel (dihydropyridine receptor; DHPR) located on the T-tubule with a Ca2+ release channel (ryanodine r eceptor; RYR1) on the sarcoplasmic reticulum (SR) component of the triad. Here, we characterize a novel class of congenital myopathy at the morphological, molecular, and functional levels.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: V. Schartner, N. Romero, S. Donkervoort, S. Treves, P. Munot, T. Pierson, I. Dabaj, E. Malfatti, I. Zaharieva, F. Zorzato, B. Eymard, A. Taratuto, A. Boland, J. Deleuze, V. Biancalana, S. Quijano-Roy, F. Muntoni, C. B önnemann, J. Laporte, Study Group Source Type: research