Results 1 to 10 of about 7,259,281 (171)

Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy. [PDF]

Adv Biomed Res, 2023
Background:The phenotypic range of limb-girdle muscular dystrophies (LGMDs) varies significantly because of genetic heterogeneity ranging from very mild to severe forms.
Arab F, Ahangari N, Malek H, Doosti M, Najarzadeh Torbati P, Ghayoor Karimiani E.   +5 more
europepmc   +3 more sources

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

Skelet 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 ...
White Z, Sun Z, Sauge E, Cox D, Donen G, Pechkovsky D, Straub V, Francis GA, Bernatchez P.   +8 more
europepmc   +3 more sources

Impaired myogenesis in limb girdle muscular dystrophy type 2B. [PDF]

Sci Rep
The skeletal muscle tissue has a remarkable capacity of growth and regeneration. Fusion of myoblasts and myotubes elongation are fundamental processes in muscle development.
Souza LS, Ishiba R, Ribeiro-Junior AF, Zogbi IA, Bouragba D, Bigot A, Mouly V, Vainzof M.   +7 more
europepmc   +3 more sources

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
This case concerns a Chinese female patient who was referred to our clinic having complained of weakness in her lower limbs. Following a series of diagnostic procedures, including electrophysiology, muscle biopsy and genetic analysis, the patient was ...
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +3 more sources

Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect. [PDF]

Mol Genet Genomic Med, 2019
Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Mojbafan M, Tina S, Zafarghandi Motlagh F, Surguchov A, Nilipour Y, Zeinali S.   +5 more
europepmc   +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 (
White Z, Milad N, Tehrani AY, Chen WW, Donen G, Sellers SL, Bernatchez P.   +6 more
europepmc   +3 more sources

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

J Rheum Dis, 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.
Kim MJ, Oh YJ, Hong YH, Park SH, Oh JS, Kim MJ, Chae JH, Shin K.   +7 more
europepmc   +2 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 ...
Quilacio JMS, Rosales RL, Ampil ER.
europepmc   +2 more sources

Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report. [PDF]

Mol Syndromol, 2023
Introduction: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease whose pattern of weakness is predominantly distal. Limb-girdle muscular dystrophy type 2B/R2-dysferlin-related (LGMD2B/R2) is another neuromuscular disease ...
Hauschild LA, Seixas Maia da Silva T, Winckler PB, Moreira Cardoso-Júnior L, Saute JAM, Donis KC.   +5 more
europepmc   +2 more sources

Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B. [PDF]

Neurosciences (Riyadh), 2020
Dysferlinopathies are rare autosomal recessive muscular dystrophies caused by mutation in the dysferlin (DYSF) gene, resulting in varied phenotype. In this case report, we review a 26-year-old diabetic male patient who presented to hospital suffering ...
Aldosari KH, Al-Ghamdi S, Alkhathlan KM, Alkhalidi HM.   +3 more
europepmc   +2 more sources