Results 11 to 20 of about 5,189 (209)

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   +2 more sources

The limb-girdle muscular dystrophies—Diagnostic strategies

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
The limb-girdle muscular dystrophies are a group of disorders where our understanding of their underlying molecular basis has made huge strides over the past years, revealing great heterogeneity at the clinical and molecular level. The availability of direct protein and/ or gene based approaches to diagnosis means that these disorders can now be ...
Bushby, Kate, Norwood, Fiona, Straub, Volker   +2 more
openaire   +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

An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy

Muscles, 2023
Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding muscle proteins that are defective for heterozygous and homozygous mutations prevalent in certain regions.
Naoufel Chabbi, Corrado Angelini, Alicia Aurora Rodriguez   +2 more
doaj   +1 more source

Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration

Frontiers in Pediatrics, 2021
ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and ...
Haiyan Yang, Fang Cai, Hongmei Liao, Siyi Gan, Ting Xiao, Liwen Wu   +5 more
doaj   +1 more source

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +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

Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]

, 2010
Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Paul S Sharp, Dominic J. Wells, Ke Liu, Susan C Brown, Sharp, P S, Dominic J Wells, Cirak, S., Sebahattin Cirak, Wells, DJ, Paul S. Sharp, Muntoni, F., Susan C. Brown, Wells, D J, Brockington, M., Cirak, S, Liu, K., Brockington, M, Torelli, S, Brown, SC, Sharp, PS, Muntoni, F, Brown, S C, Sharp, P.S., Torelli, S., Liu, K, Wells, D.J., Silvia Torelli, Brockington, M A, Francesco Muntoni, Martin Brockington, Brown, S.C.   +30 more
core   +1 more source

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Nicholas H Keep, Keep, Nicholas H., Altin Sula, Sula, Altin, Orengo, C., Ambrose R Cole, Corin Yeats, Yeats, C., Christine Orengo   +9 more
core   +1 more source