Results 31 to 40 of about 2,813 (174)

The challenging diagnosis of dysferlinopathy – a case report [PDF]

Romanian Journal of Neurology, 2021
Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset
Claudiu Gabriel Socoliuc, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian   +4 more
doaj   +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

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Molecular Therapy: Methods & Clinical Development, 2021
Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo, Eun Kyoung Kim, Jaeil Choi, Dae-Seong Kim, Jin-Hong Shin   +4 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

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

Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. [PDF]

PLoS ONE, 2012
The dysferlinopathies comprise a group of untreatable muscle disorders including limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment syndrome, and rigid spine syndrome.
William E Grose, K Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M Shontz, Chrystal L Montgomery, Sarah Lewis, Robert H Brown, Paul M L Janssen, Jerry R Mendell, Louise R Rodino-Klapac   +10 more
doaj   +1 more source

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B

, 2022
Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT).
Annamaria Cerantonio, Francesca Cavalcanti, Patrizia Spadafora, Olivier Gallo, Spadafora, Patrizia, Gallo, Olivier, Luigi Citrigno, Selene De Benedittis, Qualtieri, Antonio, Cavalcanti, Francesca, Antonio Qualtieri, Cerantonio, Annamaria, Di Palma, Gemma, Gemma Di Palma, De Benedittis, Selene, Citrigno, Luigi   +15 more
core   +1 more source

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes.
Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino, Lee-Jun C. Wong   +9 more
doaj   +1 more source

Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. [PDF]

PLoS ONE, 2010
Dysferlin is a type II transmembrane protein implicated in surface membrane repair in muscle. Mutations in dysferlin lead to limb girdle muscular dystrophy 2B, Miyoshi Myopathy and distal anterior compartment myopathy.
Bilal A Azakir, Sabrina Di Fulvio, Christian Therrien, Michael Sinnreich   +3 more
doaj   +1 more source

Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B

Journal of Lipid Research, 2018
Progressive limb and girdle muscle atrophy leading to loss of ambulation is a hallmark of dysferlinopathies, which include limb-girdle muscular dystrophy type 2B and Miyoshi myopathy.
Stephanie L. Sellers, Nadia Milad, Zoe White, Chris Pascoe, Rayleigh Chan, Geoffrey W. Payne, Chun Seow, Fabio Rossi, Michael A. Seidman, Pascal Bernatchez   +9 more
doaj   +1 more source