Results 151 to 160 of about 1,438 (185)

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

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

“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

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

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

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

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

Respiratory and cardiac function in japanese patients with dysferlinopathy

Muscle and Nerve, 2016
ABSTRACTIntroductionWe retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction.MethodsSubjects included 48 patients who underwent respiratory evaluation (n = 47), electrocardiography (n = 46), and echocardiography (n = 23).ResultsOf the 47 patients, 10 had ...
Atsuko Nishikawa, Madoka Mori-Yoshimura, Yukiko K Hayashi   +2 more
exaly   +3 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