ReviewPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
The congenital muscular dystrophies: recent advances and molecular insights.
Review in Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 67 citations in OpenAlex.
- Recent advances in the synthesis of α-dystroglycanRSC advances · 2026Review
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- Association between Decreased ITGA7 Levels and Increased Muscle α-Synuclein in an MPTP-Induced Mouse Model of Parkinson's Disease.International journal of molecular sciences · 2022Article
- Laminin Polymerization and Inherited Disease: Lessons From Genetics.Frontiers in genetics · 2021Review
- Multifaceted antibodies development against synthetic α-dystroglycan mucin glycopeptide as promising tools for dystroglycanopathies diagnostic.Glycoconjugate journal · 2020Article
- Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.Muscle & nerve · 2019Article
- Rare variant inActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019Article
- Identifying Common Genes, Cell Types and Brain Regions Between Diseases of the Nervous System.Frontiers in genetics · 2019Article
- Genetic defects disrupting glial ion and water homeostasis in the brain.Brain pathology (Zurich, Switzerland) · 2018Review
- The role of laminins in the organization and function of neuromuscular junctions.Matrix biology : journal of the International Society for Matrix Biology · 2017Review
- B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I.The American journal of pathology · 2016Article
- Milder forms of muscular dystrophy associated with POMGNT2 mutations.Neurology. Genetics · 2015Article
- FE65 and FE65L1 amyloid precursor protein-binding protein compound null mice display adult-onset cataract and muscle weakness.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2015Article
- Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA.Brain pathology (Zurich, Switzerland) · 2014Article
- Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy.Human molecular genetics · 2014Article
- Muscle-specific microRNAs as biomarkers of Duchenne Muscular Dystrophy progression and response to therapies.Rare diseases (Austin, Tex.) · 2014Article
- Preclinical studies in the mdx mouse model of duchenne muscular dystrophy with the histone deacetylase inhibitor givinostat.Molecular medicine (Cambridge, Mass.) · 2013Article
- Elevated expression of the integrin-associated protein PINCH suppresses the defects of Drosophila melanogaster muscle hypercontraction mutants.PLoS genetics · 2013Article
- Article
- Comparative proteomic profiling of dystroglycan-associated proteins in wild type, mdx, and Galgt2 transgenic mouse skeletal muscle.Journal of proteome research · 2012Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Over the past decade, molecular understanding of the congenital muscular dystrophies (CMDs) has greatly expanded. The diseases can be classified into 3 major groups based on the affected genes and the location of their expressed protein: abnormalities of extracellular matrix proteins (LAMA2, COL6A1, COL6A2, COL6A3), abnormalities of membrane receptors for the extracellular matrix (fukutin, POMGnT1, POMT1, POMT2, FKRP, LARGE, and ITGA7), and abnormal endoplasmic reticulum protein (SEPN1). The diseases begin in the perinatal period or shortly thereafter. A specific diagnosis can be challenging because the muscle pathology is usually not distinctive. Immunostaining of muscle using a battery of antibodies can help define a disorder that will need confirmation by gene testing. In muscle diseases with overlapping pathological features, such as CMD, careful attention to the clinical clues (e.g., family history, central nervous system features) can help guide the battery of immunostains necessary to target an unequivocal diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.