Results 81 to 90 of about 466,057 (189)

LGMD2I in a North American population

BMC Musculoskeletal Disorders, 2007
Background There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I).
White Alexander J, Thorne Marielle, Estrella Elicia, Feener Chris A, Kang Peter B, Darras Basil T, Amato Anthony A, Kunkel Louis M   +7 more
doaj   +1 more source

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

Molecular Therapy: Methods & 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 ...
David Israeli, Jérémie Cosette, Guillaume Corre, Fatima Amor, Jérôme Poupiot, Daniel Stockholm, Marie Montus, Bernard Gjata, Isabelle Richard   +8 more
doaj   +1 more source

Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy

Case Reports in Genetics, 2018
Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the
Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang   +5 more
doaj   +1 more source

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology
Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish ...
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 more
doaj   +1 more source

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

The limb girdle muscular dystrophies (LGMD) are termed as such as they share the characteristic feature of muscle weakness predominantly affecting the shoulder and pelvic girdles; their classification has been completely revised in recent years because ...
Bushby K, Eymard B, Lochmuller H, Norwood F, De Visser M   +4 more
core   +5 more sources

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

Frontiers in Pediatrics
Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles.
Sergey Nikitin, Evgeniya Melnik, Inna Sharkova, Aysylu Murtazina, Olga Shchagina, Victoriia Zabnenkova, Vadim Tsargush, Elena Dadali, Sergey Kutsev   +8 more
doaj   +1 more source

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice

The Journal of Clinical Investigation
The dystrophin-glycoprotein complex (DGC) is composed of peripheral and integral membrane proteins at the muscle cell membrane that link the extracellular matrix with the intracellular cytoskeleton.
Ekaterina I. Mokhonova, Daniel Helzer, Ravinder Malik, Hafsa Mamsa, Jackson Walker, Mark Maslanka, Tess S. Fleser, Mohammad H. Afsharinia, Shiheng Liu, Johan Holmberg, Z. Hong Zhou, Eric J. Deeds, Kirk C. Hansen, Elizabeth M. McNally, Rachelle H. Crosbie   +14 more
doaj   +1 more source

Limb-girdle muscular dystrophy type 2D: clinical and genetic analysis of a family

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To study the characteristics and diagnosis of limb-girdle muscular dystrophy type 2D (LGMD2D). Methods The clinical characteristics, EMG, muscle MRI and muscle pathological studies of 2 female patients in a family with LGMD2D were analyzed ...
Li-yu OU, Yi-ming SUN, Jing LI, Liang WANG, Huan LI, Ying ZENG, Ying-yin LIANG, Cheng ZHANG   +7 more
doaj  

Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies

, 2008
Fourteen years ago, the first disease-causing mutation in a form of autosomal recessive limb-girdle muscular dystrophy was reported. Since then the number of genes has been extended to at least 14 and the phenotypic spectrum has been broadened.
Straub VW, Bushby KMD
core   +3 more sources

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics & Genomic Medicine
Background Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
doaj   +1 more source