Results 31 to 40 of about 2,422 (183)

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

Frontiers in Neuroscience, 2022
BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families ...
Norah Alharbi, Rawan Matar, Edward Cupler, Hindi Al-Hindi, Hatem Murad, Iftteah Alhomud, Dorota Monies, Ali Alshehri, Mossaed Alyahya, Brian Meyer, Saeed Bohlega   +10 more
doaj   +1 more source

Atypical Miyoshi distal myopathy: A case report

Experimental and Therapeutic Medicine, 2016
Five distinct predominant distal myopathies have been identified with discrete clinical and genetic patterns. Miyoshi myopathy (MM; early adult-onset, type 2) is a subtype of dysferlinopathy. Furthermore, MM is the most common form of autosomal recessive distal myopathy.
Meiling, Wang, Yujie, Guo, Yong, Fu, Rui, Jia, Gang, Chen   +4 more
openaire   +3 more sources

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 ...
Achanzar, Anderson, Aroul-Selvam, Bansal, Barker, Bashir, Bateman, Berg, Bernatchez, Bravo, Britton, Brunger, Cagliani, Cagliani, Cho, Cornilescu, Couet, Davis, de Luna, Delaglio, DeLano, Doherty, Dosset, Essen, Eugen-Matthias Strehle, Flocco, Glaser, Gouet, Han, Holm, Huang, James D. Watson, Katharine Bushby, Kawabe, Krissinel, Laskowski, Lennon, Letunic, Linge, Linge, Liu, Lu, Matsuda, Matsuda, McNeil, Miyoshi, Muhandiram, Nagashima, Nalefski, Nederveen, Nguyen, Nicholas H. Keep, Ottiger, Paul C. Driscoll, Ponting, Pryank Patel, Richard Harris, Rizo, Roux, Ruckert, Rumaisa Bashir, Somers, Stella M. Geddes, Sutton, Tagawa, Takahashi, Tan, Therrien, Vranken, Yamazaki, Yasunaga   +70 more
core   +1 more source

Functions of Vertebrate Ferlins

Cells, 2020
Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
doaj   +1 more source

The muscle protein dysferlin accumulates in the Alzheimer brain [PDF]

, 2006
Dysferlin is a transmembrane protein that is highly expressed in muscle. Dysferlin mutations cause limb-girdle dystrophy type 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin has also been described in neural tissue.
James E. Galvin, Divya Palamand, Jeff Strider, Margherita Milone, Alan Pestronk, M Aoki, V Askanas, D Bansal, D Bansal, R Bashir, S Britton, B Caughey, G Cenacchi, DB Davis, B Dermaut, KR Doherty, JE Galvin, JE Galvin, JE Galvin, JE Galvin, JE Galvin, M Goedert, YK Hayashi, M Ho, M Ho, EP Hoffman, PJ Holzfeind, I Illa, Y Ling, G McKhann, JC Morris, S Salani, MC Sharma, MG Spillantini, S Yasunaga   +34 more
core   +1 more source

Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle

Frontiers in Physiology, 2014
The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases.
Jaclyn P. Kerr, Christopher W. Ward, Robert J. Bloch   +2 more
doaj   +1 more source

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. [PDF]

, 2015
BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different
Fischer, D., Huebner, A., Jung, H.H., Kana, V., Kress, W., Kuntzer, T., Lobrinus, J.A., Petersen, J.A., Rushing, E.J., Sinnreich, M., von der Hagen, M.   +10 more
core   +3 more sources

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source

Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report

BMC Pediatrics, 2022
Background Dysferlinopathy refers to a heterogenous group of autosomal recessive disorders that affect a skeletal muscle protein called dysferlin. These mutations are associated with limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, asymptomatic ...
Jason Katz, Anatalia Labilloy, Andrew Lee   +2 more
doaj   +1 more source

Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy [PDF]

, 2015
BACKGROUND: Anoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity. It was recently reported that mutations
Jing Xu, Kyle Floyd, Li Xu, Lixia Zhao, Mona El Refaey, Paul M. L. Janssen, Renzhi Han, Tallib Karaze, Yandi Gao   +8 more
core   +1 more source