ArticleOrphanet journal of rare diseases2018
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.Journal of neurology · 2023Pooled it
- From gene to heart: the impact of a novel SGCD variant in familial dilated cardiomyopathy.BMC medical genomics · 2026Article
- The Limb Girdle Muscular Dystrophy Health Index (LGMD-HI).Neuromuscular disorders : NMD · 2024Article
- MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders.Neuromolecular medicine · 2023Article
- Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.Orphanet journal of rare diseases · 2023Article
- Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.Frontiers in genetics · 2023Article
- [Clinical and laboratory features of recessive Limb Girdle Muscular dystrophies in the Department Neurology of University Hospital of Point G].Health sciences and disease : the journal of medicine and health science · 2021Article
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.Molecular genetics and metabolism reports · 2020Article
- Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.Orphanet journal of rare diseases · 2020Article
- Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses.Frontiers in neurology · 2020Article
- Emery-Dreifuss muscular dystrophy: focal point nuclear envelope.Current opinion in neurology · 2019Review
- Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundLimb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD in South China.
resultsWe analyzed the clinical information, muscle magnetic resonance imaging (MRI) findings, and genetic results obtained from 30 patients (24 families) with clinically suspected LGMD. In 24 probands, 38 variants were found in total, of which 18 were shown to be novel. Among the 30 patients, the most common subtypes were dysferlinopathy in eight (26.67%), sarcoglycanopathies in eight [26.67%; LGMD 2C in three (10.00%), LGMD 2D in three (10.00%), and LGMD 2F in two (6.67%)], LGMD 2A in seven (23.33%), followed by LGMD 1B in three (10.00%), LGMD 2I in three (10.00%), and early onset recessive Emery-Dreifuss-like phenotype without cardiomyopathy in one (3.33%). Furthermore, we also observed novel clinical presentations for LGMD 1B, 2F, and 2I patients with hypermobility of the joints in the upper limbs, a LGMD 2F patient with delayed language development, and other manifestations. Moreover, distinct distributions of fatty infiltration in patients with LGMD 2A, dysferlinopathy, and the early onset recessive Emery-Dreifuss-like phenotype without cardiomyopathy were also observed based on muscle MRI results.
conclusionsIn this study, we expanded the clinical spectrum and genetic variability found in patients with LGMD, which provided additional insights into genotype and phenotype correlations in this disease.
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