Results 11 to 20 of about 2,422 (183)

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? [PDF]

Am J Case Rep, 2017
BACKGROUND Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical suspicion is required to guide the genetic investigation.
Scalco RS, Lorenzoni PJ, Lynch DS, Martins WA, Jungbluth H, Quinlivan R, Becker J, Houlden H.   +7 more
europepmc   +10 more sources

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies [PDF]

Human Mutation, 2005
DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies. Dysferlin deficiency in muscle is the most relevant feature for the diagnosis of dysferlinopathy and prompts the search for mutations in DYSF.
Nguyen, Karine, Bassez, Guillaume, Bernard, Rafaelle, Krahn, Martin, Labelle, Véronique, Figarella-Branger, Dominique, Pouget, Jean, Hammouda, El Hadi, Béroud, Christophe, Urtizberea, Andoni, Eymard, Bruno, Leturcq, France, Lévy, Nicolas   +12 more
openaire   +5 more sources

Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance [PDF]

Journal of Cardiovascular Magnetic Resonance, 2010
Background Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly
Kim Byoung, Park Seung, Lee Sang-Chol, Choi Jin-Oh, Chang Sung-A, Ryu Dong, Choe Yeon, Park Sung-Ji, Choi E, Kim Duk-Kyung, Oh Jae K   +10 more
doaj   +2 more sources

Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy [PDF]

BMC Musculoskeletal Disorders, 2010
Background The administration of rituximab (RTX) in vivo results in B-cell depletion, but evidence for multiple mechanisms of action have been reported.
Porretti Laura, Bresolin Nereo, Belicchi Marzia, Marchesi Chiara, Cogiamanian Filippo, Lerario Alberto, Torrente Yvan   +6 more
doaj   +4 more sources

Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy

Muscle & Nerve, 1996
We describe clinical, pathological, and muscle imaging findings in a patient with an early adult-onset progressive muscular weakness in association with atrophy beginning in the legs and involving both gastrocnemi in particular. Muscle biopsy findings showed a severe dystrophic process with no vacuoles, consistent with Miyoshi's myopathy.
G. Meola, V. Sansone, G. Rotondo, A. Jabbour   +3 more
openaire   +5 more sources

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]

Orphanet Journal of Rare Diseases
Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema, Jacob Goodwin, Teerin Liewluck, Robert Charles Bucelli, Alan Pestronk, Margherita Milone   +5 more
doaj   +2 more sources

Arterial Stiffness and Markers of Atrial Myopathy. [PDF]

Ann Noninvasive Electrocardiol
Arterial stiffness, measured as either c‐f PWV or Aix75, was associated with fewer PACs, whereas no association was found with P‐wave indices. The association between arterial stiffness and atrial myopathy is complex and merits further study. ABSTRACT Background Arterial stiffness, measured using carotid‐femoral pulse wave velocity (c‐f PWV) and heart ...
Okrajni M, Platonov P, Muhammad IF, Holmqvist F, Lundberg JE, Persson A, Kennbäck C, Healey JS, Engström G, Johnson LS.   +9 more
europepmc   +2 more sources

The challenging diagnosis of dysferlinopathy – a case report [PDF]

Romanian Journal of Neurology, 2021
Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset
Claudiu Gabriel Socoliuc, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian   +4 more
doaj   +1 more source

A Late-Onset Presentation of Miyoshi Myopathy: A Case Report. [PDF]

Cureus
Ansari U, Dua A, Aneja E, Amani N, Muttalib Z, Lui F, Chima BS.   +6 more
europepmc   +3 more sources

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

BMC Neurology, 2022
Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics.
Ning Wang, Xu Han, Shengpu Hao, Jingzhe Han, Xiaomeng Zhou, Shuyan Sun, Jin Tang, Yanpeng Lu, Hongran Wu, Shaojuan Ma, Xueqin Song, Guang Ji   +11 more
doaj   +1 more source