Results 11 to 20 of about 2,813 (174)

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities [PDF]

International Journal of Molecular Sciences
Dysferlin is a large transmembrane protein involved in critical cellular processes including membrane repair and vesicle fusion. Mutations in the dysferlin gene (DYSF) can result in rare forms of muscular dystrophy; Miyoshi myopathy; limb girdle muscular dystrophy type 2B (LGMD2B); and distal myopathy.
Bal Hari Poudel, Sue Fletcher, Steve D. Wilton, May Aung-Htut   +3 more
europepmc   +4 more sources

Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice [PDF]

Skeletal Muscle, 2022
Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently demonstrated in typically mild dysferlin- and dystrophin-deficient mouse models that ...
Zoe White, Zeren Sun, Elodie Sauge, Dan Cox, Graham Donen, Dmitri Pechkovsky, Volker Straub, Gordon A. Francis, Pascal Bernatchez   +8 more
doaj   +3 more sources

Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B. [PDF]

PLoS ONE, 2019
There is no cure or beneficial management option for Limb-Girdle muscular dystrophy (MD) type 2B (LGMD2B). Losartan, a blood pressure (BP) lowering angiotensin II (AngII) receptor type 1 (ATR1) blocker (ARB) with unique anti-transforming growth factor-β (
Zoe White, Nadia Milad, Arash Y Tehrani, William Wei-Han Chen, Graham Donen, Stephanie L Sellers, Pascal Bernatchez   +6 more
doaj   +3 more sources

Solution Structure of the Inner DysF Domain of Myoferlin and Implications for Limb Girdle Muscular Dystrophy Type 2B [PDF]

Journal of Molecular Biology, 2008
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix. However, there is sequence conservation in some of the ferlin family in regions outside the C2 domains.
Patel P, Harris R, Geddes SM, Strehle E-M, Watson JD, Bashir R, Bushby K, Driscoll PC, Keep NH   +8 more
core   +7 more sources

Clinical and Pathological Characteristics of Four Korean Patients with Limb-Girdle Muscular Dystrophy type 2B [PDF]

Journal of Korean Medical Science, 2004
Limb-girdle muscular dystrophy type 2B (LGMD2B), a subtype of autosomal recessive limb-girdle muscular dystrophy (ARLGMD), is characterized by a relatively late onset and slow progressive course. LGMD2B is known to be caused by the loss of the dysferlin protein at sarcolemma in muscle fibers. In this study, the clinical and pathological characteristics
Oh, Seung-Hun, Kang, Seong-Woong, Lee, Jin-Goo, Na, Sang-Jun, Kim, Tai-Seung, Choi, Young-Chul   +5 more
openaire   +5 more sources

Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report [PDF]

Pediatric Rheumatology, 2013
Abstract Limb girdle muscular dystrophy type 2B is a rare subtype of muscular dystrophy, the predominant feature of which is muscle weakness. The disease is caused by an autosomal recessively inherited reduction/absence of muscle dysferlin due to a mutation in dysferlin gene at 2p12-14.
Jethwa, Hannah, Jacques, Thomas S, Gunny, Roxanna, Wedderburn, Lucy R, Pilkington, Clarissa, Manzur, Adnan Y   +5 more
openaire   +3 more sources

A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review [PDF]

Journal of Rheumatic Diseases, 2021
Limb-Girdle Muscular Dystrophy 2B (LGMD2B) presents with proximal and/or distal muscle weakness and markedly high creatine kinase level. It is caused by the loss of dysferlin due to mutations in the DYSF gene. Due to its similar clinical features as inflammatory myopathy, it is often difficult to distinguish between the two.
Min Jung Kim, Yoon-Jeong Oh, Yoon Ho Hong, Sung-Hye Park, Ji Seon Oh, Min Jung Kim, Jong-Hee Chae, Kichul Shin   +7 more
openaire   +4 more sources

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos [PDF]

Cureus, 2022
Limb-girdle muscle dystrophy (LGMD) is the fourth most common genetic cause of muscle weakness, with LGMD type 2A (LGMD2A) being one of the most common adult-onset muscular dystrophies presenting with limb-girdle weakness, while LGMD type 2B (LGMD2B) being the most common distal myopathy. This study includes two cases.
Quilacio, Joanna May S, Rosales, Raymond L, Ampil, Encarnita R   +2 more
openaire   +3 more sources

Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage [PDF]

Medicine, 2018
Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by alteration of the DYSF gene; Limb-girdle muscular dystrophy type 2B (LGMD2B) is the most common in Its clinical phenotypes. However, LGMD2B is rarely seen in clinical cases and may initially present as weakness of proximalpelvis muscles ...
Xu, Chuan, Chen, Jiajun, Zhang, Yingyu, Li, Jia   +3 more
openaire   +3 more sources

Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I [PDF]

Journal of Cardiovascular Magnetic Resonance, 2011
Background Limb girdle muscular dystrophies (LGMD) are inclusive of 7 autosomal dominant and 14 autosomal recessive disorders featuring progressive muscle weakness and atrophy. Studies of cardiac function have not yet been well-defined in deficiencies of
Habib Philip, Dunn Nicholas, McCarthy Beth, Tran Tam, Moser Sean J, Rosales Xiomara Q, Simonetti Orlando P, Mendell Jerry R, Raman Subha V   +8 more
doaj   +3 more sources