Results 171 to 180 of about 1,979 (203)

Dysferlinopathy in Iran: Clinical and genetic report

Journal of the Neurological Sciences, 2015
Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM). We describe the clinical course and mutational analyses of 15 Iranian patients with dysferlinopathy from 9 different ...
Farzad Fatehi, Shahriar Nafissi, Nicolas Levy   +2 more
exaly   +3 more sources

Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle

International Journal of Neuroscience, 2015
Mitochondrial defects have been associated with a series of muscular diseases. Dysferlinopathy, however, has been rarely reported with mitochondrial dysfunction. Here we report a cohort of dysferlinopathy patients with mitochondrial abnormalities found in muscle.Clinical data and muscle pathologies of nine cases with dysferlinopathy were ...
Fuchen, Liu, Jianwei, Lou, Dandan, Zhao, Wei, Li, Yuying, Zhao, Xiulian, Sun, Chuanzhu, Yan   +6 more
openaire   +2 more sources

A case of dysferlinopathy presenting choreic movements

Movement Disorders, 2006
AbstractMutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements.
Toshiaki, Takahashi, Masashi, Aoki, Takashi, Imai, Masaru, Yoshioka, Hidehiko, Konno, Shuichi, Higano, Yoshiaki, Onodera, Hiroshi, Saito, Itaru, Kimura, Yasuto, Itoyama   +9 more
openaire   +2 more sources

Late onset dysferlinopathy mimicking treatment resistant polymyositis

Joint Bone Spine, 2016
Joint Bone Spine - In Press.Proof corrected by the author Available online since mardi 13 octobre ...
Zoltán, Griger, Melinda, Nagy-Vincze, Levente, Bodoki, Romain K, Gherardi, Katalin, Dankó, Tibor, Hortobágyi   +5 more
openaire   +2 more sources

Molekulare Diagnostik der Dysferlinopathie

2005
Die Dysferlinopathie ist eine Erkrankung aus dem Formenkreis der Gliedergürtel-Muskel-dystrophien. Sie wird verursacht durch autosomal-rezessiv vererbte Mutationen, die drei klinisch heterogene Phänotypen verursachen können: Die Gliedergürtel-Muskeldystrophie Typ 2B (LGMD2B), die Miyoshi Myopathie (MM) und die distale anteriotibiale Myopathie (DMAT ...
openaire   +1 more source

T.P.21 Exon skipping for dysferlinopathies

Neuromuscular Disorders, 2012
Abstract Mutations in the dysferlin encoding DYSF gene have been reported for limb-girdle muscular dystrophy 2B, miyoshi myopathy and distal myopathy with anterior tibial onset patients. Most patients have small mutations within exons, inducing premature stops or amino acid substitutions, which lead to protein instability or mislocalization.
A. Aartsma-Rus, N. Verwey, P. Schneiderat, S.M. van der Maarel, G.J.B. van Ommen, I. Houweling-Gazzoli   +5 more
openaire   +1 more source

P.188The clinical outcome study for dysferlinopathy: pregnancy in dysferlinopathy

Neuromuscular Disorders, 2019
U. Moore, M. James, M. Jacobs, A. Mayhew, S. Spuler, J. Day, D. Bharucha-Goebel, T. Stojkovic, J. Mendell, V. Straub   +9 more
openaire   +1 more source

P281 Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy

Neuromuscular Disorders, 2023
H. Hilsden, M. James, H Gordish Dressman, J. Day, J. Mendell, R Fernandez Torron, M. Harms, A. Pestronk, J. Vissing, U. Desai, M. Yoshimura, J. Shin, T. Mozaffar, T. Stojkovic, E. Pegoraro, J Bevilacqu Raivas, M. Olive, C. Paradas, V. Straub, A. Mayhew   +19 more
openaire   +1 more source

Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?

Neuromuscular Disorders, 2017
M.K. James, M. Jacobs, A. Mayhew, J. Feng, S. Spuler, J.W. Day, K.J. Jones, D.X. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M.C. Walter, C. Paradas, T. Stojkovic, M. Mori-Yoshimura, E. Bravver, J. Diaz Manera, E. Pegoraro, J.R. Mendell, K. Bushby, V. Straub   +19 more
openaire   +1 more source

Dysferlinopathies

Journal of Genetic Syndromes & Gene Therapy, 2013
openaire   +1 more source