Results 11 to 20 of about 10,549 (211)

The heart in limb girdle muscular dystrophy [PDF]

Heart, 1998
OBJECTIVE: To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes.
Barth, P. G., Busch, H.F.M., Jennekens, F. G., van der Kooi, AJ, Jongen, P. J., Jongen, PJH, Voogt, W.G. de, Jongen, P.J.H., Visser, M. de, Barth, PG, Barth, P.G., Busch, H. F., Kooi, A.J. van der, de Voogt, WG, Jennekens, FGI, de Visser, M., van der Kooi, A. J., Jennekens, F.G.I., de Voogt, W. G., de Voogt, W.G., van der Kooi, A.J., Busch, HFM (Herman), Visser, M   +22 more
core   +7 more sources

Cardiomyopathy of limb-girdle muscular dystrophy.

Journal of the American College of Cardiology, 1994
OBJECTIVES: This study sought to find an association between dilated cardiomyopathy and limb-girdle muscular dystrophy. BACKGROUND: Cardiomyopathy has been seen in various neuromuscular disorders, but it has not been recognized to be associated with limb-
Gilchrist, J, DeGirolami, U, Chad, D A, Bishop, R L, Spodick, D H, Townes, P L, Mudge, G H, Mascarenhas, D A, Maki, D W   +8 more
core   +4 more sources

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Miller CL, Coffey LN, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman MB, Mathews KD.   +6 more
europepmc   +2 more sources

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

Limb girdle muscular dystrophies in India [PDF]

Neurology India, 2008
The recent years have seen remarkable progress in the field of limb girdle muscular dystrophies (LGMDs) with the advances in immunocytochemistry and genetics. Based on this, many subgroups have emerged. Protein products and genes are getting defined and newer mechanisms of disease are being recognized.
Khadilkar, Satish V., Singh, Rakesh K.
openaire   +4 more sources

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

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

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

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

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]

, 2008
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M., Keep, Nicholas H., Bashir, R., Driscoll, P.C., Patel, P., Harris, R., Bushby, K., Watson, J.D., Strehle, E.M.   +8 more
core   +1 more source