Results 41 to 50 of about 466 (135)

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

Frontiers in Neuroscience, 2022
BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families ...
Norah Alharbi, Rawan Matar, Edward Cupler, Hindi Al-Hindi, Hatem Murad, Iftteah Alhomud, Dorota Monies, Ali Alshehri, Mossaed Alyahya, Brian Meyer, Saeed Bohlega   +10 more
doaj   +1 more source

Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

BMC Medical Genetics, 2020
Background Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1.
Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali   +5 more
doaj   +1 more source

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Arquivos de Neuro-Psiquiatria, 2014
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas   +10 more
doaj   +1 more source

Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G

Stem Cell Research
Calpainopathy is a progressive autosomal recessive limb girdle muscular dystrophy (LGMD R1) caused by variants in the calpain 3 (CAPN3) gene. We have shown that the hypomorphic intronic mutation c.1746-20C > G, which is common in Latvia (MAF 0.237 ...
Karina Goluba, Vadims Parfejevs, Anastasija Neimane, Anastasija Tvoronovica, Baiba Lace, Mehrnaz Ghazvini, Inna Inashkina, Una Riekstina   +7 more
doaj   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Limb-girdle muscular dystrophy type 2A in Brazilian children

Arquivos de Neuro-Psiquiatria, 2015
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI ...
Marco Antônio Veloso de Albuquerque, Osório Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed   +4 more
doaj   +1 more source

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Journal of Behçet Uz Children's Hospital, 2020
INTRODUCTION: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics.
Tuğçe Aksu Uzunhan, Biray Ertürk, Pelin Özyavuz Çubuk, Bülent Uyanık, Akif Ayaz, Onur Akan, Taha Reşid Özdemir   +6 more
doaj   +1 more source

From Variant Interpretation to Biomarker Translation: Multi‐omics Integration in Inherited Neuromuscular Diseases

Human Mutation, Volume 2026, Issue 1, 2026.
Genetic neuromuscular diseases are highly heterogeneous disorders characterized by diagnostic challenges and limited therapeutic options, underscoring an urgent need for precise biomarkers. The rapid advancement of multi‐omics technologies has broadened biomarker discovery from single genomics to multidimensional integrative analyses encompassing ...
Suming Zhang, Xiaoling Lang, Lunxin Liu, Hao Chi   +3 more
wiley   +1 more source

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort. [PDF]

Turk J Med Sci
Calpainopathy, also known as limb-girdle muscular dystrophy recessive type 1, is a progressive muscle disorder that impacts the muscles around the hips and shoulders. The disease is caused by defects in the CAPN3 gene and can be inherited in both recessive and dominant forms.
Şahin İO, Karataş E, Demir M, Tan B, Per H, Özkul Y, Dündar M.   +6 more
europepmc   +3 more sources

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb‐Girdle Muscular Dystrophy in an Isolated Uruguayan Population

European Journal of Neurology, Volume 32, Issue 9, September 2025.
LGMD D3 in Uruguay presents as a slowly progressive adult‐onset scapulo‐pelvic‐peroneal dystrophy. Pathogenic variant c.1132G>C p.(Asp378His) was confirmed in all participants. This is the largest LGMD D3 cluster and first report of sex‐dependent age of onset.
Elisa Demicheli, Andrea Zamora, Nury Sánchez, Valentina Colistro, Beatriz Vicente, Emilio Salazar, Mercedes Chiesa, Anahi Santos, Florencia Benvenuto, Mónica Sans, María Cristina Vázquez   +10 more
wiley   +1 more source