Results 1 to 10 of about 484,924 (172)

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene [PDF]

International Medical Case Reports Journal
Omar Ahmed Alghamdi,1 Osama Obaid,2 Ahmed Gamal Sayed,3 Hania Farhan,3 Jamal Sayed1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia;
Alghamdi OA, Obaid O, Sayed AG, Farhan H, Sayed J   +4 more
doaj   +2 more sources

Аutosomal recessive limb-girdle muscular dystrophy type 2A: two cases in Ukraine with different age of onset

Medičnì Perspektivi, 2021
The paper reports on two cases of young women from Ukraine with autosomal recessive limb-girdle muscular dystrophy type 2A with different age of symptoms onset and an absence of any family history presented with gradual onset of proximal muscle weakness
Yu.H. Antipkin, L.H. Kyrylova, O.O. Miroshnykov, O.O. Yuzva, V.V. Orzheshkovskyi, A.F. Nechay   +5 more
doaj   +1 more source

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source

The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and Behavior, 2021
Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen   +4 more
doaj   +1 more source

Water T2 could predict functional decline in patients with dysferlinopathy

Journal of Cachexia, Sarcopenia and Muscle, 2022
Background Water T2 (T2H2O) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials.
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish‐Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, The Jain COS Consortium, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier, Jordi Diaz‐Manera   +26 more
doaj   +1 more source

Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency [PDF]

Human Mutation
John Vissing, Edoardo Malfatti, Thomas Krag   +2 more
exaly   +2 more sources

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

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

BMC Musculoskeletal Disorders, 2020
Background Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement.
Xuelin Feng, Jinlang Wu, Wenbiao Xian, Bing Liao, Songjie Liao, Xiaoli Yao, Weixi Zhang   +6 more
doaj   +1 more source

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies

Acta Neuropathologica Communications, 2022
The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies.
Nicole Becker, Steven A. Moore, Karra A. Jones   +2 more
doaj   +1 more source

Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3

Nature Communications, 2023
The authors report the Cryo-EM of hnRNPDL-2 fibrils. The structure highlights features of a functional amyloid associated with limb-girdle muscular dystrophy-3 and explains how alternative splicing controls the assembly of this ribonucleoprotein.
Javier Garcia-Pardo, Andrea Bartolomé-Nafría, Antonio Chaves-Sanjuan, Marcos Gil-Garcia, Cristina Visentin, Martino Bolognesi, Stefano Ricagno, Salvador Ventura   +7 more
doaj   +1 more source