Results 181 to 190 of about 5,143 (201)

Muscle pathology in dysferlin deficiency

Neuropathology and Applied Neurobiology, 2002
Dysferlin deficiency is being increasingly recognized in limb‐girdle dystrophy and distal myopathy but its role in the development of muscle pathology is still poorly understood. For this purpose, 26 muscle biopsies from 25 dysferlinopathy patients were analysed by routine histochemistry and by immunohistochemistry with eight different antibodies, and ...
FANIN, MARINA, ANGELINI, CORRADO
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Dysferlin deficiency treated like refractory polymyositis

Clinical Rheumatology, 2009
When an adult suffers from muscular symptoms, the diagnosis of polymyositis is often accepted if muscular biopsy reveals necrosis, fibrosis and cellular infiltrate with high expression of major histocompatibility complex class I. Late-onset limb-girdle muscular dystrophy (LGMD) can also be considered.
Julien, Vinit, Maxime, Samson, Jean-Baptiste, Gaultier, Annie, Laquerriere, Elisabeth, Ollagnon, Philippe, Petiot, Isabelle, Marie, Hervé, Levesque, Hugues, Rousset   +8 more
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Lipid Accumulation in Dysferlin-Deficient Muscles

The American Journal of Pathology, 2014
Dysferlin is a membrane associated protein involved in vesicle trafficking and fusion. Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopathy in humans and myopathy in A/J(dys-/-) and BLAJ mice, but the pathomechanism of the myopathy is not understood.
Grounds, M., Terrill, J., Crabb, Hannah, Robertson, Terry, Papadimitriou, J., Spuler, S., Shavlakadze, T.   +6 more
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Dysferlin, dystrophy, and dilatative cardiomyopathy

Journal of Molecular Medicine, 2007
The muscular dystrophies are a heterogeneous group of inherited disorders featuring progressive muscle weakness and atrophy. After the discovery of dystrophin, remarkable progress was made in defining the molecular properties of various proteins involved in the muscular dystrophies.
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Dysferlin‐deficient muscular dystrophy features amyloidosis

Annals of Neurology, 2008
AbstractObjectiveDysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood.MethodsThe gene encoding dysferlin was sequenced in patients with suspected dysferlin‐deficient muscular dystrophy.
Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C   +9 more
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Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms

Human Genetics, 2009
In conducting dysferlin mutational screening using blood mRNA instead of genomic DNA, we identified the occurrence of alternative splicing involving novel dysferlin exons, i.e. exons 5a and 40a, in addition to previously reported alternative splicing of exon 17.
Pramono, Z.A.D., Yee, W.C., Tan, C.L., Seah, I.A.L., See, J.S.L., Kam, S.Y., Lai, P.S.   +6 more
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Muscular dystrophy in dysferlin-deficient mouse models

Neuromuscular Disorders, 2013
Mutations in the dysferlin gene result in the development of a range of early adult-onset, progressive muscular dystrophies, collectively known as the dysferlinopathies. There is currently no effective treatment for these disorders. Several spontaneous and engineered alleles at the mouse dysferlin locus have been isolated and these dysferlin-deficient ...
Mark A, Hornsey, Steven H, Laval, Rita, Barresi, Hanns, Lochmüller, Kate, Bushby   +4 more
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Dysferlin mutations in Japanese Miyoshi myopathy

Neurology, 2003
To study dysferlin gene mutations and genotype-phenotype correlations in Japanese patients with Miyoshi myopathy (MM).MM is an autosomal recessive distal muscular dystrophy that arises from mutations in the dysferlin gene. This gene is also mutated in families with limb girdle muscular dystrophy 2B.The authors examined 25 Japanese patients with MM ...
T, Takahashi, M, Aoki, M, Tateyama, E, Kondo, T, Mizuno, Y, Onodera, R, Takano, H, Kawai, K, Kamakura, H, Mochizuki, M, Shizuka-Ikeda, M, Nakagawa, Y, Yoshida, J, Akanuma, K, Hoshino, H, Saito, M, Nishizawa, S, Kato, K, Saito, T, Miyachi, H, Yamashita, M, Kawai, T, Matsumura, S, Kuzuhara, T, Ibi, K, Sahashi, H, Nakai, T, Kohnosu, I, Nonaka, K, Arahata, R H, Brown, H, Saito, Y, Itoyama   +32 more
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Defective membrane repair in dysferlin-deficient muscular dystrophy

Nature, 2003
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically distinct muscle diseases, limb-girdle muscular dystrophy type 2B and Miyoshi myopathy, but the mechanism that leads to muscle degeneration is unknown.
Dimple, Bansal, Katsuya, Miyake, Steven S, Vogel, Séverine, Groh, Chien-Chang, Chen, Roger, Williamson, Paul L, McNeil, Kevin P, Campbell   +7 more
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Repairing the tears: dysferlin in muscle membrane repair

Trends in Molecular Medicine, 2003
Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears.
Katherine R, Doherty, Elizabeth M, McNally   +1 more
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