Results 21 to 30 of about 880 (137)

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

EFFECT OF STRUCTURED EXERCISE REGIMEN ON QUALITY OF LIFE, BALANCE AND STRENGTH ON A PATIENT WITH MIYOSHI MYOPATHY – A CASE REPORT

International Journal of Physiotherapy, 2020
Background: Dysferlinopathy is an autosomal recessive disease seen in adolescence or young adulthood. Miyoshi Myopathy is characterized by weakness and wasting of posterior compartment leg muscles rather than the anterior compartment and distal upper ...
Abhishek Taklekar, Akhil Samson, Tushar Palekar   +2 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

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease [PDF]

Neuromuscular Disorders, 2021
This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing ...
Moore, Ursula, Gordish, Heather, Diaz-Manera, Jordi, James, Meredith, Mayhew, Anna, Guglieri, Michela, Fernandez-Torron, Roberto, Rufibach, Laura, Feng, Jia, Blamire, Andrew, Carlier, Pierre, Spuler, Simone, Day, John, Jones, Kristi, Bharucha-Goebel, Diana, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Pax Lowes, Linda, Mendell, Jerry, Bushby, Kate, Straub, Volker   +26 more
openaire   +9 more sources

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Annals of Clinical and Translational Neurology, Volume 10, Issue 11, Page 2092-2104, November 2023., 2023
Abstract Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and
Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde   +8 more
wiley   +1 more source

Calf-Head Sign in Miyoshi Myopathy [PDF]

Archives of Neurology, 2006
To observe whether patients with Miyoshi-type dysferlinopathy demonstrate any distinct appearance in the back of the shoulders and upper back in a specific posture.Case series.Neurology outpatient clinic of a north Indian tertiary care medical institute.Fifteen patients from 9 families (10 males and 5 females; age range, 16-42 years) who had Miyoshi ...
openaire   +2 more sources

Translational implications of targeting annexin A2: From membrane repair to muscular dystrophy, cardiovascular disease and cancer

Clinical and Translational Discovery, Volume 3, Issue 5, October 2023., 2023
1.Annexin A2 is a key repair protein that works with S100A10 and other S100 proteins to execute its membrane repair and extracellular roles. 2.Annexin A2 is a therapeutic target because the loss of annexin A2 function enhances cellular degeneration, which exacerbates muscular dystrophy and cardiovascular disease.
Victor G. Kayejo, Hannah Fellner, Roshan Thapa, Peter A. Keyel   +3 more
wiley   +1 more source

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

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