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A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.
No clinical trials have been registered for intermediate collagen VI-related muscular dystrophy.
3 publications have been identified in PubMed for intermediate collagen VI-related muscular dystrophy. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).
Fortunato F (2025). [PMID: 41154655](https://pubmed.ncbi.nlm.nih.gov/41154655/). *Biomolecules*. [Epidemiology / Natural History]
Foley AR (2025). [PMID: 40177858](https://pubmed.ncbi.nlm.nih.gov/40177858/). *Brain*. [Case Report / Case Series]
Sharaf-Eldin WE (2024). [PMID: 39367186](https://pubmed.ncbi.nlm.nih.gov/39367186/). *J Mol Neurosci*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC
European rare disease database