Results 41 to 50 of about 805 (150)

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   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, Volume 14, Issue 5, Page 354-361, September 2026.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Orphanet Journal of Rare Diseases, 2018
Background Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles.
Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang   +9 more
doaj   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

European Journal of Neurology, Volume 33, Issue 1, January 2026.
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá, Sofía Portela, Rafael Sivera, Marina Frasquet, Fernando Más‐Estellés, Pilar Martí, Inmaculada Azorín, Karolina Aragon‐Gawinska, María Tárrega, Herminia Argente‐Escrig, Juan F. Vázquez‐Costa, Roger Vilchez, Juan J. Vilchez, Teresa Sevilla, Nuria Muelas   +14 more
wiley   +1 more source

Primary renal potassium wasting syndrome in a juvenile domestic medium‐hair cat secondary to an atypical distal renal tubular disorder of undetermined molecular origin

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract Renal potassium wasting syndromes, such as Gitelman's syndrome (GS), are well documented in humans but rarely reported in veterinary medicine. This case describes a 6‐month‐old domestic medium‐hair cat presenting with chronic hypokalaemia, polyuria and polydipsia. Diagnostic evaluation revealed hypokalaemia, metabolic alkalosis, hypochloraemia
Kyle L. Granger Jr., Vivian Ojeda‐Rosenthal, Mei Lun Mui   +2 more
wiley   +1 more source

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

Annals of Clinical and Translational Neurology, Volume 12, Issue 6, Page 1179-1186, June 2025.
ABSTRACT 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 clinical trial readiness in the context of anticipated therapeutic trials.
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
wiley   +1 more source

Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.
ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz, Carla Bolano‐Díaz, Alejandro Gonzalez‐Chamorro, Sam Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gomez‐Andres, Javier Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge Alfredo Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoska, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James Lilleker, Mark Roberts, Bianca Buchignani, Jinhong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sarkozy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera, the Myo‐Guide Consortium   +58 more
wiley   +1 more source

Limb girdle muscular dystrophies: The clinicopathological viewpoint

Annals of Indian Academy of Neurology, 2007
Limb girdle muscular dystrophies (LGMD) are characterized by involvement of the pelvic and shoulder girdles, classically with an onset in the second or third decade and a slow progression as opposed to Duchenne muscular dystrophy. In fact, there are many
Urtizberea J, Leturcq France
doaj  

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source