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Nutrition: Calcium
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Total 268 results found since Jan 2013.
P.10 Compound CACNA1S heterozygosity resulting in a novel phenotype of congenital myopathy and early onset periodic paralysis: report of two probands
Skeletal muscle contraction is mediated by excitation-contraction coupling (ECC), a process involving the rapid elevation of cytosolic calcium. L-type voltage gated calcium channels located on T-tubule membranes are the voltage sensors of ECC. The dihydropyridine receptor (DHPR) contains the pore forming basic functional elements of these calcium channels and is encoded by the CACNA1S gene. Recessive mutations in the CACNA1S gene have been recently reported with a severe congenital myopathy and facial involvement.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: S. Aburahma, M. Shboul, S. Lucchiari, G. Comi, G. Meola, S. Pagliarani Source Type: research
P.187 SelN expression in activated satellite cells following muscle injury
SELENON-related congenital myopathy is characterized by proximal weakness starting in infancy, early respiratory insufficiency, and early development of severe scoliosis. While changes in the SELENON gene, which encodes the protein SelN, are known to cause this disease the mechanisms through which loss of SelN lead to myopathy are not well understood. Previous studies suggest that SelN may have multiple roles in muscle, including regulating development of Type II muscle fibers, modulating excitation-contraction coupling through interactions with RYR1 and other muscle calcium channels, and possibly supporting satellite cell...
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: M. Wright Source Type: research
Genes, Vol. 13, Pages 1726: Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy
We report a Korean having MH with multi-minicore myopathy functionally supported by RYR1-mediated intracellular Ca2+ release testing in B lymphocytes. A 14-year-old boy was admitted for the evaluation of progressive torticollis accompanied by cervicothoracic scoliosis. During the preoperative drape of the patient for the release of the sternocleidomastoid muscle under general anesthesia, his wrist and ankle were observed to have severe flexion contracture. The body temperature was 37.1 °C. To treat MH, the patient was administered a bolus of dantrolene intravenously (1.5 mg/kg) and sodium bicarbonate. After a f...
Source: Genes - September 26, 2022 Category: Genetics & Stem Cells Authors: Young Jae Moon Joonhong Park Jung Ryul Kim Seung Yeob Lee Jaehyeon Lee Yong Gon Cho Dal Sik Kim Tags: Communication Source Type: research
Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case
The MICU1 gene encodes the mitochondrial calcium uptake 1 protein, an essential regulator of mitochondrial Ca2+ uptake and mitochondrial calcium homeostasis [1]. Bi-allelic loss-of-function (LOF) variants in MICU1 are known to cause a rare, autosomal recessive neuromuscular disease, also termed ‘myopathy with extrapyramidal signs’ (MPXPS) (OMIM #615673) [2]. The clinical phenotype usually includes childhood-onset proximal weakness with increased serum CK and liver enzymes, developmental delay and intellectual disability.
Source: Parkinsonism and Related Disorders - September 9, 2022 Category: Neurology Authors: Christina Fevga, Federico Ferraro, Guido J. Breedveld, Charulata Savant Sankhla, Vincenzo Bonifati Tags: Correspondence Source Type: research
The spectrum of manifestations of primary hyperparathyroidism in children and adolescents
CONCLUSIONS: Our study showed the spectrum of manifestations of PHPT in children and adolescents and outcomes of parathyroidectomy till one year. Long-term follow-up studies with bigger cohorts are required to understand the true nature of the disease in children and adolescents.PMID:35942826 | DOI:10.5114/pedm.2022.118315
Source: Pediatric Endocrinology, Diabetes, and Metabolism - August 9, 2022 Category: Endocrinology Authors: Hiya Boro Saurav Khatiwada Sarah Alam Suraj Kubihal Vinay Dogra Sundeep Malla Chitresh Kumar Source Type: research
