Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]
, 2005 Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), and present a homogenous phenotype
Beteta, Javier Toledano +6 more
core +3 more sources
The SUV39 Family of H3K9 Methyltransferases in Skeletal Muscle Stem Cells
FASEB BioAdvances, Volume 7, Issue 6, June 2025.The SUV39 family members are well known for methylating the Lysine 9 of the histone H3 (H3K9) in order to compact the chromatin and contributing to gene repression. We describe their active role in proliferating and differentiating muscle stem cells, how they prevent from inflammation and fibrosis during muscle regeneration and the future avenues ...
Pauline Garcia +2 more
wiley +1 more source
Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins [PDF]
, 2018 Laminopathies yield tissue-specific pathologies, yet arise from mutation of ubiquitously-expressed genes. A little investigated hypothesis to explain this is that the mutated proteins or their partners have tissue-specific splice variants.
Capitanchik, Charlotte +5 more
core +2 more sources
From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis
Health Expectations, Volume 28, Issue 3, June 2025.ABSTRACT Introduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom management.
Homira Osman +6 more
wiley +1 more source
Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles [PDF]
, 2016 In skeletal muscles, levels and activity of Matrix MetalloProteinases (MMPs) and Tissue Inhibitors of MetalloProteinases (TIMPs) have been involved in myoblast migration, fusion and various physiological and pathological remodeling situations including ...
Alameddine, HS, Morgan, JE
core +1 more source
The role of inner nuclear membrane protein emerin in myogenesis
The FASEB Journal, Volume 39, Issue 7, 15 April 2025.Emerin function is critical for proper genome reorganization and temporal gene expression necessary for terminal myogenic differentiation. Emerin interacts with both HDAC3 and histone methyltransferases (HMTs) to organize chromatin at the inner nuclear membrane.
Nicholas Marano, James M. Holaska
wiley +1 more source
American Journal of Perinatology Reports, 2016 Introduction Autosomal dominant Emery–Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects.
Megumi Sato +9 more
doaj +1 more source
Manifestações Cardíacas nas Doenças Neuromusculares [PDF]
, 2010 RESUMO As distrofi as musculares são um grupo heterogéneo de doenças que se associam a alterações cardíacas (cardiomiopatia, arritmias), que podem ser determinantes no prognóstico destes doentes.
Álvares, S.
core
Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies [PDF]
, 2019 Ankrd2 (ankyrin repeats containing domain 2) or Arpp (ankyrin repeat, PEST sequence, and proline-rich region) is a member of the muscle ankyrin repeat protein family. Ankrd2 is mostly expressed in skeletal muscle, where it plays an intriguing role in the
Capanni, Cristina +4 more
core +1 more source
Molecular genetics of cardiomyopathy: changing times, shifting paradigms [PDF]
, 2003 The original publication is available at http://www.cvja.co.za/Includes bibliographyCongestive heart failure is a major problem in developed and developing countries alike.
Brink, Paul A. +3 more
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