ArticleYonsei medical journal2016
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
Article in Yonsei medical journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Loss of Calpain 3 dysregulates store-operated calcium entry and its exercise response in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.Orphanet journal of rare diseases · 2024Article
- Loss of calpain 3 dysregulates store-operated calcium entry and its exercise response in mice.bioRxiv : the preprint server for biology · 2024Article
- Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.Arquivos de neuro-psiquiatria · 2023Review
- Compound heterozygousMolecular medicine reports · 2021Article
- Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.Journal of molecular neuroscience : MN · 2019Article
- The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.Orphanet journal of rare diseases · 2018Article
- Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables.Scientific reports · 2017Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis study was designed to investigate the characteristics of Korean patients with calpainopathy. MATERIALS AND
methodsThirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted sequencing of the CAPN3 gene. Clinical, mutational, and pathological spectra were then analyzed.
resultsNine different mutations, including four novel mutations (NM_000070: c.1524+1G>T, c.1789_1790inA, c.2184+1G>T, and c.2384C>T) were identified. The median age at symptom onset was 22 (interquartile range: 15-28). Common clinical findings were joint contracture in nine patients, winged scapula in four, and lordosis in one. However, we also found highly variable clinical features including early onset joint contractures, asymptomatic hyperCKemia, and heterogeneous clinical severity in three members of the same family. Four of nine muscle specimens revealed lobulated fibers, but three showed normal skeletal muscle histology.
conclusionWe identified four novel CAPN3 mutations and demonstrated clinical and pathological heterogeneity in Korean patients with calpainopathy.
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