ArticleBMC neurology2019
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
Article in BMC neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Article
- Article
- Reduced Bone Mass in Collagen Prolyl 4-HydroxylaseJBMR plus · 2022Article
- 3D Mapping Reveals a Complex and Transient Interstitial Matrix During Murine Kidney Development.Journal of the American Society of Nephrology : JASN · 2021Article
- The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament.Molecular medicine reports · 2020Article
- Article
- Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.Annals of Indian Academy of NeurologyArticle
- A Novel Variant of COL6A2 Gene Causing Bethlem Myopathy and Evaluation of Essential Hypertension.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCollagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable to mutations in the COL6A1, COL6A2, and COL6A3 genes. However, no case of collagen VI mutations with hematuria has been reported. We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). CASE PRESENTATION: The patient was a 14-year-old boy presenting with muscle weakness from 3 years of age without any family history. Six months before admission, he developed recurrent gross hematuria, three bouts in total, with the presence of blood clots in the urine. Next-generation sequencing of his whole-exome was performed. The result of sequencing revealed a de novo heterozygous G-to-A nucleotide substitution at position 877 in exon 10 of the COL6A1 gene. After treatment, the hematuria healed, but the muscle weakness failed to improve.
conclusionsHematuria in Bethlem myopathy can be caused by COL6 mutations, which may be related to the aberrant connection between collagen VI and collagen IV.
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