Results 21 to 30 of about 805 (150)

Dysregulated ATX-LPA and YAP/TAZ signaling in dystrophic Sgcd −/− mice with early fibrosis and inflammation [PDF]

Skeletal Muscle
Background Sarcoglycanopathies are muscle dystrophies caused by mutations in the genes encoding sarcoglycans (α, β, γ, and δ) that can destabilize the dystrophin-associated glycoprotein complex at the sarcolemma, leaving muscle fibers vulnerable to ...
Cristian Gutiérrez-Rojas, Adriana Córdova-Casanova, Jennifer Faundez-Contreras, Meilyn Cruz-Soca, Felipe S. Gallardo, Alexia Bock-Pereda, Juan Carlos Casar, Elisabeth R. Barton, Enrique Brandan   +8 more
doaj   +2 more sources

Limb-girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies. [PDF]

Muscle Nerve
Abstract Limb‐girdle muscular dystrophies (LGMDs) constitute a diverse group of inherited disorders primarily affecting skeletal muscle. Despite the absence of cures, rehabilitative treatments offer potential for preventing and mitigating loss of muscle strength. However, the role of exercise training in LGMD patients remains contentious.
D'Este G, Spagna M, Federico S, Cacciante L, Cieślik B, Kiper P, Barresi R.   +6 more
europepmc   +2 more sources

Modeling Sarcoglycanopathy in Danio rerio. [PDF]

Int J Mol Sci, 2023
Sarcoglycanopathies, also known as limb girdle muscular dystrophy 3-6, are rare muscular dystrophies characterized, although heterogeneous, by high disability, with patients often wheelchair-bound by late adolescence and frequently developing respiratory and cardiac problems.
Dalla Barba F, Soardi M, Mouhib L, Risato G, Akyürek EE, Lucon-Xiccato T, Scano M, Benetollo A, Sacchetto R, Richard I, Argenton F, Bertolucci C, Carotti M, Sandonà D.   +13 more
europepmc   +5 more sources

Sarcoglycanopathies: a report of 25 cases. [PDF]

Neurology India, 2002
Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was more pronounced in adductor and flexor groups of muscles of the limbs, hip adductor muscles being the weakest. The selective and differential weakness between weak hip adductors and stronger hip abductors resulted in the hip ...
S. V. Khadilkar, R. K. Singh, S. M. Katrak   +2 more
core   +3 more sources

Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C: A case report

Clinical Case Reports, 2023
Limb‐girdle muscular dystrophy‐type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26‐year‐old male who had inactive walking due to proximal muscle weakness.
Nam‐Chung Tran, Tuan Anh Nguyen, Thanh Dat Ta, Thinh Huy Tran, Phuoc‐Dung Nguyen, Chi Dung Vu, Van‐Hung Nguyen, The‐Hung Bui, Thanh Van Ta, Van Khanh Tran   +9 more
doaj   +1 more source

Sarcoglycanopathies: A clinico-pathological study [PDF]

Neurology India, 2007
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders characterized by limb girdle weakness. There are no clear clinical features that distinguish various types of LGMD.We studied 26 patients with chronic progressive weakness in limb girdle distribution without early facial involvement with muscle biopsies suggestive of dystrophy ...
A K, Meena, D, Sreenivas, C, Sundaram, R, Rajasekhar, J S, Sita, R, Borgohain, A, Suvarna, S, Kaul   +7 more
openaire   +3 more sources

Revised spectrum of mutations in sarcoglycanopathies [PDF]

European Journal of Human Genetics, 2008
To define the spectrum of mutations in alpha-, beta-, gamma-, and delta-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal recessive limb-girdle muscular dystrophy.
Madiha, Trabelsi, Niloufar, Kavian, Fatma, Daoud, Virginie, Commere, Nathalie, Deburgrave, Caroline, Beugnet, Stephane, Llense, Jean Claude, Barbot, Aurélie, Vasson, Jean Claude, Kaplan, France, Leturcq, Jamel, Chelly   +11 more
openaire   +2 more sources

Functional deficits in nNOSmu-deficient skeletal muscle: myopathy in nNOS knockout mice. [PDF]

PLoS ONE, 2008
Skeletal muscle nNOSmu (neuronal nitric oxide synthase mu) localizes to the sarcolemma through interaction with the dystrophin-associated glycoprotein (DAG) complex, where it synthesizes nitric oxide (NO).
Justin M Percival, Kendra N E Anderson, Paul Gregorevic, Jeffrey S Chamberlain, Stanley C Froehner   +4 more
doaj   +1 more source

Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?

Dilated cardiomyopathy is a feature of Duchenne and Becker muscular dystrophies and occasionally of sarcoglycanopathies. Its pathogenesis is unknown. Patients with myotonic dystrophy have an impairment of coronary smooth muscle and this could contribute ...
Mercuri E, Bushby K, Taylor J, Gnecchi-Ruscone T, Pogue R, Camici PG, Paternostro G, Muntoni F, Sewry C   +8 more
core   +10 more sources

Improvement in childhood limb-girdle muscular dystrophy with Ayurvedic management: A case report

Journal of Ayurveda Case Reports, 2022
The Limb-Girdle Muscular Dystrophies (LGMDs) include a heterogeneous group of disorders characterized by the progressive wasting and weakness of the proximal limb-girdle muscles.
M. K Lekshmi, Alka Chouhan, Anjali Sam, Rakhi Krishanan   +3 more
doaj   +1 more source