Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
Abstract
Get full access to this article
View all available purchase options and get full access to this article.
Supplementary Material
- Download
- 79.50 KB
REFERENCES
Information & Authors
Information
Published In
Copyright
Publication History
Authors
Metrics & Citations
Metrics
Citation information is sourced from Crossref Cited-by service.
Citations
If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Select your manager software from the list below and click Download.
- Muscular Dystrophies, International Encyclopedia of Public Health, (107-126), (2025).https://doi.org/10.1016/B978-0-323-99967-0.00185-X
- Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy, Neurology Genetics, 10, 3, (2024)./doi/10.1212/NXG.0000000000200148
- Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD, Neurology Genetics, 10, 2, (2024)./doi/10.1212/NXG.0000000000200137
- A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review , Neuropathology and Applied Neurobiology, 50, 4, (2024).https://doi.org/10.1111/nan.13004
- Collagen diseases, Biochemistry of Collagens, Laminins and Elastin, (371-398), (2024).https://doi.org/10.1016/B978-0-443-15617-5.00046-9
- Congenital Muscular Dystrophies, Principles and Practice of the Muscular Dystrophies, (175-191), (2024).https://doi.org/10.1007/978-3-031-44009-0_11
- Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review, International Journal of Molecular Sciences, 24, 17, (13545), (2023).https://doi.org/10.3390/ijms241713545
- Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study, Neuromuscular Disorders, 33, 5, (371-381), (2023).https://doi.org/10.1016/j.nmd.2023.03.003
- A 7‐year‐old female with hypotonia and scoliosis, Brain Pathology, 32, 6, (2022).https://doi.org/10.1111/bpa.13076
- Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources, Clinical Neurology and Neurosurgery, 217, (107271), (2022).https://doi.org/10.1016/j.clineuro.2022.107271
- See more
View Options
Login options
Check if you have access through your login credentials or your institution to get full access on this article.
Personal login Institutional LoginPurchase Options
The neurology.org payment platform is currently offline. Our technical team is working as quickly as possible to restore service.
If you need immediate support or to place an order, please call or email customer service:
- 1-800-638-3030 for U.S. customers - 8:30 - 7 pm ET (M-F)
- 1-301-223-2300 for customers outside the U.S. - 8:30 - 7 pm ET (M-F)
- [email protected]
We appreciate your patience during this time and apologize for any inconvenience.