Results 11 to 20 of about 484,924 (172)

Limb-Girdle Muscular Dystrophy

Pediatric Neurology Briefs, 2001
Sixty-one members of a large Spanish kindred with autosomal dominant limb-girdle muscular dystrophy (LGMD), spanning 5 generations, were examined at the Hospital Vail d’Hebron, Barcelona and other centers.
J Gordon Millichap
doaj   +2 more sources

Dystrophin in Limb-Girdle Dystrophy

Pediatric Neurology Briefs, 1991
Dystrophin content in muscle was analyzed by both immunofluorescence and immunoblot in 41 patients with a clinical diagnosis of limb-girdle muscular dystrophy seen at the National Institute of Neuroscience, Tokyo, Japan over a 12-year period.
J Gordon Millichap
doaj   +2 more sources

Cardiomyopathy of limb-girdle muscular dystrophy. [PDF]

, 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
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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

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

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

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages [PDF]

, 2007
Mutations in laminin-alpha2 cause a severe congenital muscular dystrophy, called MDC1A. The two main receptors that interact with laminin-alpha2 are dystroglycan and alpha7beta1 integrin.
Ruegg, M. A., Patrizia Barzaghi, Lochmuller, H., Sarina Meinen, Markus A. Ruegg, Lin, S., Hanns Lochmüller, Shuo Lin, Barzaghi, P., Meinen, S.   +9 more
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Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

Frontiers in Neurology, 2022
Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and ...
Matthew Katz, Fleur C. Garton, Mark Davis, Robert D. Henderson, Pamela A. McCombe, Pamela A. McCombe   +5 more
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Limb Girdle Muscular Dystrophy (LGMD): Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs ...
Shubhangi A. Kanitkar, Meenakshi Kalyan, Anu N. Gaikwad, Ankit Makadia, Harshad Shah   +4 more
doaj   +1 more source

Tcap Deficiency in Zebrafish Leads to ROS Production and Mitophagy, and Idebenone Improves its Phenotypes

Frontiers in Cell and Developmental Biology, 2022
Limb-girdle muscular dystrophy 2G (LGMD2G) is a subtype of limb-girdle muscular dystrophy. However, the disease’s mechanisms are still not fully understood, and no established therapeutic targets have been found.
Xiaoqing Lv, Rui Zhang, Ling Xu, Guangyu Wang, Chuanzhu Yan, Pengfei Lin   +5 more
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