Zobrazeno 1 - 10
of 2 382
pro vyhledávání: '"CONGENITAL MYOPATHY"'
Autor:
Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Gautham Arunachal, Ramya Sukrutha, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Girish Baburao Kulkarni, Yasha T. Chickabasaviah, Rashmi Santhosh Kumar, Atchayaram Nalini, Saraswati Nashi
Publikováno v:
Global Medical Genetics, Vol 11, Iss 04, Pp 297-303 (2024)
Introduction ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation–contraction of skeletal muscles. Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogress
Externí odkaz:
https://doaj.org/article/cf549a7ea159480b91bed6d9fa940577
Autor:
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical m
Externí odkaz:
https://doaj.org/article/2ecd19f0cda141cfa0923df68ca7b619
Autor:
Qifei Li, Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng, Behzad Moghadaszadeh, Alan H. Beggs, Xiaoli Liu, Mark A. Perrella, Pankaj B. Agrawal
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 3, Pp 1003-1015 (2024)
Abstract Background Autosomal‐recessive mutations in SPEG (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy with or without dilated cardiomyopathy (CNM5). Loss of SPEG is associated with defective
Externí odkaz:
https://doaj.org/article/4a401a4397804f1bafdbce30c8191ed7
Autor:
Paulo Victor Sgobbi Souza, Tmirah Haselkorn, Jader Baima, Renato Watanabe Oliveira, Fabián Hernández, Marina G. Birck, Marcondes C. França
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil. We identified and
Externí odkaz:
https://doaj.org/article/9ca6438626e94bd9a4f211feb78cc9fc
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 05, Pp 01-05 (2024)
Duchenne Muscular Dystrophy (DMD) is the most common primary myopathy of children. There are many muscular diseases in children which are inherited through generations. All those are known as congenital myopathy. This disease is an X-linked recessive
Externí odkaz:
https://doaj.org/article/dacf762044244a2b8d64f0f8722ad628
Autor:
Ji Yoon Han, Joonhong Park
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28684- (2024)
Background: SCN4A mutations account for a diverse array of clinical manifestations, encompassing periodic paralysis, myotonia, and newly recognized symptoms like classical congenital myopathy or congenital myasthenic syndromes. We describe the initia
Externí odkaz:
https://doaj.org/article/7f056933b5ac4511ba85d376e6a4fe75
Autor:
Matthias R. Lambert, Emanuela Gussoni
Publikováno v:
Skeletal Muscle, Vol 13, Iss 1, Pp 1-18 (2023)
Abstract The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers. Recent
Externí odkaz:
https://doaj.org/article/b84bc009df984d0481b3726d61a9edce
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 321-334 (2023)
Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Heterozygous dominant mutations in DNM2 cause centronuclear myopathy (CNM), associated with muscle weakness and atrophy and histopathologic
Externí odkaz:
https://doaj.org/article/5f04a7b0f8894a26b0b3eb53cea42822
Autor:
Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionCACNA1S related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the CACNA1S gene and the novel phenotype of congenital myopathy and infantile onset episodic weakness.Cli
Externí odkaz:
https://doaj.org/article/6569a66ef1434ed79db81c82146022f2
Autor:
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23663- (2024)
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of conge
Externí odkaz:
https://doaj.org/article/57424c0bd7fa41e8b7a2a3a71d9c5f27