Trial reportJournal of human genetics2019
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.
Trial report in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- Transcript isoform switching during embryonic and post-hatch development of broiler breast muscle.Poultry science · 2026Article
- Reducing Body Myopathy in Female Patients WithNeurology. Genetics · 2026Article
- Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies.Annals of clinical and translational neurology · 2026Article
- Clinical and genetic analysis of a family with myopathy caused by an FHL1 gene variant.BMJ neurology open · 2025Article
- Article
- Role of four and a half LIM domain protein 1 in tumors (Review).Oncology letters · 2025Review
- The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024Review
- French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).Journal of neurology · 2024Review
- FHL1 promotes chikungunya and o'nyong-nyong virus infection and pathogenesis with implications for alphavirus vaccine design.Nature communications · 2023Article
- A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.Annals of clinical and translational neurology · 2023Article
- Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients.Journal of human genetics · 2023Article
- Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles.Journal of molecular neuroscience : MN · 2021Article
- MiR-96-5p Induced by Palmitic Acid Suppresses the Myogenic Differentiation of C2C12 Myoblasts by Targeting FHL1.International journal of molecular sciences · 2020Article
- Four and a half LIM domains protein 1 can be as a double-edged sword in cancer progression.Cancer biology & medicine · 2020Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Reducing body myopathy is a rare X-linked myopathy characterized by the presence of reducing bodies. The causative gene has been identified as FHL1. We presented with the clinical, muscle magnetic resonance imaging and genetic features of 6 unrelated Chinese patients with reducing body myopathy. We divided the patients into 2 groups according to their age at onset. In addition to limb muscle weakness, pronounced axial muscle involvement was a striking feature common to both groups. Muscle magnetic resonance imaging revealed fatty infiltration predominantly in the postero-medial muscles of the thigh and the soleus muscle of the calf, sparing the gluteus and sartorius muscles. Muscle pathology demonstrated the muscle fibres with reducing bodies distributed in small groups. Genetic analysis revealed FHL1 hemizygote variants in the 6 patients, including 4 novel and 2 reported variants. These variants were located in the LIM2 domain of FHL1 in 4 patients, but 2 located in the LIM4 domain. To the best of our knowledge, this is the first report of reducing body myopathy in the Chinese population. Our findings expand the genetic spectrum of reducing body myopathy.
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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.