Results 161 to 170 of about 1,979 (203)

Dysferlinopathies: Clinical and genetic variability

Clinical Genetics, 2022
Abstract Dysferlinopathies are a clinically heterogeneous group of diseases caused by mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is mostly expressed in muscle tissues and is localized in the sarcolemma, where it performs its main function of ...
Alisa, Ivanova, Svetlana, Smirnikhina, Alexander, Lavrov   +2 more
openaire   +2 more sources

“Boule du biceps” in dysferlinopathy

Neurology, 2020
Eymard et al.1 first described “boule du biceps” (bulging of biceps), a ball-like appearance caused by the selective atrophy of the distal half of the biceps brachii (BB) muscle, in patients with dysferliniopathy. This sign is also known as biceps lump.
Rasha, El Sherif, Rasha S, Hussein, Ichizo, Nishino   +2 more
openaire   +2 more sources

Dysferlin and Animal Models for Dysferlinopathy

Journal of Toxicologic Pathology, 2012
Dysferlin (DYSF) is involved in the membrane-repair process, in the intracellular vesicle system and in T-tubule development in skeletal muscle. It interacts with mitsugumin 53, annexins, caveolin-3, AHNAK, affixin, S100A10, calpain-3, tubulin and dihydropyridine receptor.
Takeshi Izawa
exaly   +4 more sources

Dysferlinopathies

Neurology India, 2008
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive mode of inheritance. So far, three main phenotypes have been reported: Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT)
Urtizberea, J. Andoni, Bassez, Guillaume, Leturcq, France, Nguyen, Karine, Krahn, Martin, Levy, Nicolas   +5 more
openaire   +2 more sources

Dysferlinopathies

2011
Dysferlin is a sarcolemmal protein that plays an important role in patching defects in skeletal membrane by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene can lead to a variety of clinical phenotypes. Affected individuals usually present with early involvement of the posterior calf muscles (Miyoshi myopathy) in their ...
Anthony A, Amato, Robert H, Brown
openaire   +2 more sources

Dysferlinopathy associated with rigid spine syndrome

Neuropathology, 2004
Dysferlinopathy and rigid spine syndrome occurring in a 50‐year‐old man is reported. The patient noticed stiffness of knee and ankle joints, which gradually extended to neck, wrist and elbow joints leading to difficulty in anterior flexion. Muscular weakness and wasting of the lower extremities  had  developed  since  age  40,  accompanied  by  a ...
Toshiko, Nagashima, Takayo, Chuma, Yukio, Mano, Yu-ichi, Goto, Yukiko K, Hayashi, Narihiro, Minami, Ichizo, Nishino, Ikuya, Nonaka, Toshiaki, Takahashi, Hirofumi, Sawa, Masashi, Aoki, Kazuo, Nagashima   +11 more
openaire   +2 more sources

Comparison of strength testing modalities in dysferlinopathy

Muscle & Nerve, 2022
AbstractIntroduction/AimsDysferlinopathy demonstrates heterogeneity in muscle weakness between patients, which can progress at different rates over time. Changing muscle strength due to disease progression or from an investigational product is associated with changing functional ability.
Natalie F. Reash, Meredith K. James, Lindsay N. Alfano, Anna G. Mayhew, Marni Jacobs, Megan A. Iammarino, Scott Holsten, Chikako Sakamoto, Takayuki Tateishi, Hiroyuki Yajima, Tina Duong, Brittney de Wolf, Richard Gee, Diana X. Bharucha‐Goebel, Elena Bravver, Madoka Mori‐Yoshimura, Kate Bushby, Laura E. Rufibach, Volker Straub, Linda P. Lowes   +19 more
openaire   +3 more sources

Asymptomatic and oligosymptomatic states of dysferlinopathy

Journal of Neuromuscular Diseases
Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the DYSF gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states. Here, we describe the clinical signs
Roman V Deev
exaly   +3 more sources

The earliest pathologic alterations in dysferlinopathy

Neurology, 2001
Dysferlinopathies are associated with proximal or distal muscular dystrophy. Dysferlin immunolocalizes to the muscle fiber periphery but does not associate with the dystrophin--glycoprotein complex; its function in humans, and the mechanism by which it causes muscle fiber injury, are not known.
D, Selcen, G, Stilling, A G, Engel
openaire   +2 more sources

Dysferlinopathie mimant une polymyosite

La Revue de Médecine Interne, 2017
Introduction Les dysferlinopathies representent un groupe de maladies musculaires autosomiques recessives impliquant le gene codant pour la dysferline, une proteine de surface de la membrane musculaire dont la fonction n’est pas clairement etablie. Les lesions musculaires comportent souvent des alterations inflammatoires qui font porter le diagnostic ...
F. Arif, M. Moudatir, W. Bouissar, K. Ech-Chilali, F.Z. Alaoui, H. El Kabli   +5 more
openaire   +1 more source