ArticleHuman genomics2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Article in Human genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 56 citations in OpenAlex.
- Transcriptome analysis of muscle atrophy in Leizhou black goats: identification of key genes and insights into limb-girdle muscular dystrophy.BMC genomics · 2025Article
- A Novel Exon Duplication in theThe application of clinical genetics · 2025Article
- Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Orphanet journal of rare diseases · 2024Review
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.BMC musculoskeletal disorders · 2024Article
- Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.PLoS genetics · 2023Article
- In vivo Electroporation of Skeletal Muscle Fibers in Mice.Bio-protocol · 2023Article
- Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.Journal of neuromuscular diseases · 2023Article
- Phenotypic Differences Among Familial Partial Lipodystrophy Due toJournal of the Endocrine Society · 2022Article
- A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.International journal of molecular sciences · 2022Article
- Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.European journal of neurology · 2022Article
- Homozygous deletion, c. 1114-1116del, in exon 8 of theWorld journal of clinical cases · 2021Article
- The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.International journal of molecular sciences · 2021Review
- The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.International journal of molecular sciences · 2021Review
- Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.Equine veterinary journal · 2021Article
- Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.Journal of clinical medicine · 2021Article
- A Muscle Biosignature Differentiating Between Limb-Girdle Muscular Dystrophy and Idiopathic Inflammatory Myopathy on Magnetic Resonance Imaging.Frontiers in neurology · 2021Article
- Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.Journal of neuromuscular diseases · 2021Article
- Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients.Frontiers in neuroscience · 2021Article
- Genetic modifiers and phenotypic variability in neuromuscular disorders.Journal of applied genetics · 2020Review
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundLimb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis.
methodsWhole exome sequencing (WES) was performed in 73 patients with clinically diagnosed LGMD. A filtering strategy aimed at identification of variants related to the disease included integrative analysis of WES data and human phenotype ontology (HPO) terms, analysis of genes expressed in muscle, analysis of the disease-associated interactome and copy number variants analysis.
resultsGenetic diagnosis was possible in 68.5% of cases. On average, 36.3 rare variants in genes associated with various muscle diseases per patient were found that could relate to the clinical phenotype. The putative causative mutations were mostly in LGMD-associated genes, but also in genes not included in the current LGMD classification (DMD, COL6A2, and COL6A3). In three patients, mutations in two genes were suggested as the joint cause of the disease (CAPN3+MYH7, COL6A3+CACNA1S, DYSF+MYH7). Moreover, a variety of phenotype-influencing variants were postulated, including in patients with an identified already known primary pathogenic mutation.
conclusionsWe hypothesize that LGMD could be better described as oligogenic disorders in which dominant clinical presentation can result from the combined effect of mutations in a set of genes. In this view, the inter- and intrafamilial variability could reflect a specific genetic background and the presence of sets of phenotype-influencing or co-causative mutations in genes that either interact with the known LGMD-associated genes or are a part of the same pathways or structures.
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