GuidelineNeuromuscular disorders : NMD2014
Diagnostic approach to the congenital muscular dystrophies.
Guideline in Neuromuscular disorders : NMD, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
139 citing papers in PubMed, 3 syntheses or guidelines pooled it, 336 citations in OpenAlex.
- Genetic and Clinical Advances of Congenital Muscular Dystrophy.Chinese medical journal · 2017Pooled it
- III SBC Guidelines on the Analysis and Issuance of Electrocardiographic Reports - Executive Summary.Arquivos brasileiros de cardiologia · 2016Guideline
- Guideline
- Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.Orphanet journal of rare diseases · 2019Trial
- Trial
- Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource-Limited Setting.Clinical case reports · 2026Article
- Observational
- INPP5K-related muscular dystrophy caused by a novel synonymous splicing variant in a Chinese patient: a case report.MedScience · 2026Article
- Dual AAV gene therapy using laminin-linking proteins ameliorates muscle and nerve defects in LAMA2-related muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Emerging roles of microRNAs and other non-coding transcriptome in muscular dystrophies.Inflammation and regeneration · 2026Review
- Myxovirus Resistance A Protein Expression in Idiopathic Inflammatory Myopathies and Hereditary Muscle Diseases with Inflammatory Cell Infiltration: A North African Study.International journal of molecular sciences · 2026Article
- Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.International journal of molecular sciences · 2026Article
- N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.European journal of human genetics : EJHG · 2026Article
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.BMC medical genomics · 2025Article
- Article
- Local Non-Coding Regulatory Elements in Muscular Dystrophies.International journal of molecular sciences · 2025Review
- Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice.The Journal of clinical investigation · 2025Article
- Clinical and Pathological Features of Flexural Deformities Associated with Myopathies in Foals.Veterinary sciences · 2025Article
- Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
79 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 12 institutions in 6 countries.
Funding
Abstract
Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the diagnostic features, differential diagnostic considerations and available diagnostic tools for the various CMD subtypes and provide a systematic guide to the use of these resources for achieving an accurate molecular diagnosis. An International Committee on the Standard of Care for Congenital Muscular Dystrophies composed of experts on various aspects relevant to the CMDs performed a review of the available literature as well as of the unpublished expertise represented by the members of the committee and their contacts. This process was refined by two rounds of online surveys and followed by a three-day meeting at which the conclusions were presented and further refined. The combined consensus summarized in this document allows the physician to recognize the presence of a CMD in a child with weakness based on history, clinical examination, muscle biopsy results, and imaging. It will be helpful in suspecting a specific CMD subtype in order to prioritize testing to arrive at a final genetic diagnosis.
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What OpenQuestion holds
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.