Results 11 to 20 of about 1,552 (162)

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy [PDF]

Orphanet Journal of Rare Diseases
Background Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively
Rui Shimazaki, Yoshihiko Saito, Tomonari Awaya, Narihiro Minami, Ryo Kurosawa, Motoyasu Hosokawa, Hiroaki Ohara, Shinichiro Hayashi, Akihide Takeuchi, Masatoshi Hagiwara, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino   +12 more
doaj   +4 more sources

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

Clinics, 2011
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of ...
Ana F. B. Ferreira, Mary S. Carvalho, Maria Bernadete D. Resende, Alda Wakamatsu, Umbertina Conti Reed, Suely Kazue Nagahashi Marie   +5 more
doaj   +5 more sources

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies [PDF]

Annals of Clinical and Translational Neurology
Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium   +16 more
doaj   +2 more sources

An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress

Molecular Therapy - Methods and Clinical Development, 2019
Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycans. Sarcoglycans form a complex, which is an important part of the dystrophin-associated glycoprotein complex and which ...
Guillaume Corre, Isabelle Richard, David Israeli   +2 more
exaly   +3 more sources

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Case Reports in Genetics, 2014
Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-
Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun   +6 more
doaj   +2 more sources

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort [PDF]

BMC Neurology
Background Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological findings. This retrospective study aimed to identify the phenotypic and genotypic spectra of hereditary myopathies at a
Reem M. Alhammad, Marwa L. Alrehaili, Hana M. Albulaihe, Sultan S. Aljereish, Mohammed H. Alanazy   +4 more
doaj   +2 more sources

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies [PDF]

Orphanet Journal of Rare Diseases
Background Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complicated.
Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan   +16 more
doaj   +2 more sources

Modeling Sarcoglycanopathy in Danio rerio. [PDF]

Int J Mol Sci, 2023
Sarcoglycanopathies, also known as limb girdle muscular dystrophy 3-6, are rare muscular dystrophies characterized, although heterogeneous, by high disability, with patients often wheelchair-bound by late adolescence and frequently developing respiratory and cardiac problems.
Dalla Barba F, Soardi M, Mouhib L, Risato G, Akyürek EE, Lucon-Xiccato T, Scano M, Benetollo A, Sacchetto R, Richard I, Argenton F, Bertolucci C, Carotti M, Sandonà D.   +13 more
europepmc   +5 more sources

Histopathological analysis of gamma sarcoglycanopathy in Moroccan patients: A case series [PDF]

International Journal of Surgery Case Reports
Nadia Cherradi, Fouad Zouaidia
exaly   +2 more sources

Incomplete Assembly of the Dystrophin-Associated Protein Complex in 2D and 3D-Cultured Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

Frontiers in Cell and Developmental Biology, 2021
Human induced pluripotent stem cells derived cardiomyocytes (hiPSC-CM) are increasingly used to study genetic diseases on a human background. However, the lack of a fully mature adult cardiomyocyte phenotype of hiPSC-CM may be limiting the scope of these
Guillaume Gilbert, Chandan Kadur Nagaraju, Robin Duelen, Matthew Amoni, Pierre Bobin, Pierre Bobin, Thomas Eschenhagen, Thomas Eschenhagen, H. Llewelyn Roderick, Maurilio Sampaolesi, Karin R. Sipido   +10 more
doaj   +1 more source