منابع مشابه
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few congenital myopathy patients with variable pathology, including multi-minicores. Although a clinical overlap between patients with dominant and re...
متن کاملRYR1-Related Myopathies and Anesthesiological Implications
The skeletal muscle sarcoplasmic reticulum calcium release channel, commonly known as ryanodine receptor type 1 (RyR1), is encoded by the RYR1 gene and specifically interacts with the voltage-dependent Ca2+-channel Cav1.1, localized at T-tubular membrane. The depolarization of the plasma membrane results in conformational changes in Cav1.1, which are transmitted directly to the RyR1 channel, ca...
متن کاملSequence Variants in the Ryr1 Gene and Genetic Diseases: Malignant Hyperthermia and Congenital Myopathies
AKNOWLEDGEMENTS I would like to acknowledge my supervisor, Prof. Antonella Carsana, who guided me through this project with her scientific attitude and gave me the opportunity to learn many things. I was very fortunate to work in a friendly research group. I am very grateful to my colleagues that made my Ph.D time a fruitful and joyful experience. Special thanks to Dr. Alberto Zullo for his sci...
متن کاملCongenital myopathies.
This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disorders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classificati...
متن کاملRYR1 mutations are a common cause of congenital myopathies with central nuclei.
OBJECTIVE Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and has been implicated in various congenital myopathies. We investigated whether...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2013
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-27-7-2