Results 41 to 50 of about 1,730 (187)

Clinical Heterogeneity in Dysferlinopathy.

Internal Medicine, 2002
To clarify the clinical heterogeneity and genotype-phenotype correlation in dysferlinopathy.We evaluated clinical parameters of 74 dysferlinopathy patients with known dysferlin gene mutations who were previously reported in the literature.The age at onset varied from 12 to 59 years (mean 21.7 years).
UEYAMA, Hidetsugu, KUMAMOTO, Toshihide, HORINOUCHI, Hideo, FUJIMOTO, Shin, AONO, Hiroshi, TSUDA, Tomiyasu   +5 more
openaire   +3 more sources

Exon Skipping in a Dysf-Missense Mutant Mouse Model

Molecular Therapy: Nucleic Acids, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Jakub Malcher, Leonie Heidt, Aurélie Goyenvalle, Helena Escobar, Andreas Marg, Cyriaque Beley, Rachid Benchaouir, Michael Bader, Simone Spuler, Luis García, Verena Schöwel   +10 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

Deep phenotyping of an international series of patients with late‐onset dysferlinopathy

, 2021
International audienceBackground: To describe the clinical, pathological, and molecular characteristics of late-onset (LO) dysferlinopathy patients.Methods: Retrospective series of patients with LO dysferlinopathy, defined by an age at onset of symptoms ≥
Bedat-Millet, Anne-Laure, Attarian, Shahram, Shahram Attarian, Querin, Giorgia, Anne‐Laure Bedat‐Millet, France Leturcq, Ursula Moore, Thierry Kuntzer, Spinazzi, Marco, Guillaume Bassez, Krahn, Martin, Thierry Maisonobe, Emmanuelle Salort‐Campana, Masingue, Marion, Maisonobe, Thierry, Aleksandra Nadaj‐Pakleza, Laforêt, Pascal, Marco Spinazzi, Péréon, Yann, Kuntzer, Thierry, Teresinha Evangelista, Guilhem Solé, Moore, Ursula, Gorka Fernández‐Eulate, Evangelista, Teresinha, Stojkovic, Tanya, Graveleau, Julie, Volker Straub, Leonard-Louis, Sarah, Merle, Philippe-Edouard, Fernández-Eulate, Gorka, Gorokhova, Svetlana, Solé, Guilhem, Philippe‐Edouard Merle, Giorgia Querin, Sarah Leonard‐Louis, Bruno Eymard, Behin, Anthony, Eymard, Bruno, Marion Masingue, Julie Graveleau, Tanya Stojkovic, Salort-Campana, Emmanuelle, Svetlana Gorokhova, Bassez, Guillaume, Nadaj-Pakleza, Aleksandra, Straub, Volker, Feasson, Leonard, Yann Péréon, Pascal Laforêt, Leonard Feasson, Martin Krahn, Leturcq, France, Anthony Behin   +53 more
core   +1 more source

Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period

Case Reports in Neurology, 2019
Glucocorticoids are candidates for the pharmacological treatment of dysferlinopathy. Deflazacort, however, showed a worse effect on muscle strength than placebo.
Keiichi Takahashi
doaj   +1 more source

Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression [PDF]

CNS Neuroscience and Therapeutics
Feng Lin, Di WANG, Min-Ting Lin
exaly   +2 more sources

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

Frontiers in Neurology, 2020
Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we ...
Ursula Moore, Marni Jacobs, Marni Jacobs, Roberto Fernandez-Torron, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera, Jordi Diaz-Manera, Jordi Diaz-Manera   +30 more
doaj   +1 more source

A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene

Frontiers in Neurology, 2023
We report the case of a 31-year-old Chinese woman with a chief complaint of weakness in the lower limbs, which was diagnosed as limb-girdle muscular dystrophy 2B (LGMD2B) with compound heterozygous mutations of the DYSF gene.
Xiaojie Cao, Li Zeng, Zhijie Lu, Jin Fan, Song Tan, Mingjie Zhang, Zegang Yin   +6 more
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

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Case Reports in Genetics, 2016
Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014).
Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, Sikander Ailawadhi   +7 more
doaj   +1 more source