Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2021 7
2022 9
2023 13
2024 14
2025 15
2026 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

56 results

Results by year

Filters applied: . Clear all
Page 1
Collagen VI in the Musculoskeletal System.
Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C. Di Martino A, et al. Int J Mol Sci. 2023 Mar 7;24(6):5095. doi: 10.3390/ijms24065095. Int J Mol Sci. 2023. PMID: 36982167 Free PMC article. Review.
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myoscleros …
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital muscular di …
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Brain. 2025 Sep 3;148(9):3215-3227. doi: 10.1093/brain/awaf116. Brain. 2025. PMID: 40177858 Free PMC article.
Collagen VI-related dystrophies manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterized by progressive muscle weakness, joint contractur …
Collagen VI-related dystrophies manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular …
Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.
Gregorio I, Mereu M, Contarini G, Bello L, Semplicini C, Burgio F, Russo L, Sut S, Dall'Acqua S, Braghetta P, Semenza C, Pegoraro E, Papaleo F, Bonaldo P, Cescon M. Gregorio I, et al. Dis Model Mech. 2022 Sep 1;15(9):dmm049481. doi: 10.1242/dmm.049481. Epub 2022 Sep 21. Dis Model Mech. 2022. PMID: 35946603 Free PMC article.
Mutations of genes coding for collagen VI (COL6) cause muscle diseases, including Ullrich congenital muscular dystrophy and Bethlem myopathy. Although COL6 genetic variants were recently linked to brain pathologies, the impact of COL6 def …
Mutations of genes coding for collagen VI (COL6) cause muscle diseases, including Ullrich congenital muscular dystro …
Keratosis pilaris in collagen type VI-related disorders.
Ritter AM, Wine Lee L. Ritter AM, et al. Pediatr Dermatol. 2022 Jan;39(1):133-134. doi: 10.1111/pde.14883. Epub 2022 Jan 5. Pediatr Dermatol. 2022. PMID: 34986511
Keratosis pilaris is a common skin condition associated with a number of syndromes, including collagen type VI-related disorders. Our patient, recently diagnosed with Ullrich congenital muscular dystrophy, presented with severe keratosis pilaris, hypot …
Keratosis pilaris is a common skin condition associated with a number of syndromes, including collagen type VI-related disorders. Our patien …
Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy.
Lee SA, Hong JM, Lee JH, Choi YC, Park HJ. Lee SA, et al. Medicine (Baltimore). 2023 Mar 3;102(9):e33122. doi: 10.1097/MD.0000000000033122. Medicine (Baltimore). 2023. PMID: 36862922 Free PMC article.
Bethlem myopathy is one of the collagens VI-related muscular dystrophies caused by mutations in the collagen VI genes. ...Our results demonstrate transcriptome profiling of Bethlem myopathy, and provide new insights into the path mechanism of Bethle …
Bethlem myopathy is one of the collagens VI-related muscular dystrophies caused by mutations in the collagen VI genes. ...Our …
Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.
Merlini L, Sabatelli P, Cenni V, Zanobio M, Di Martino A, Traina F, Faldini C, Nigro V, Torella A. Merlini L, et al. Int J Mol Sci. 2025 Jun 4;26(11):5387. doi: 10.3390/ijms26115387. Int J Mol Sci. 2025. PMID: 40508193 Free PMC article. Review.
It has been associated with variants of the COL12A1 gene, which are known as Ullrich congenital muscular dystrophy-2 (UCMD2; 616470) and Bethlem myopathy-2 (BTHLM2; 616471). ...
It has been associated with variants of the COL12A1 gene, which are known as Ullrich congenital muscular dystrophy …
Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient.
Crossman VG, Tiong CF, Coles CA, Bozaoglu K, Forbes R, Yiu EM, Ruparelia AA, Currie PD, Vlahos K, Howden SE, North KN, Lamandé SR, Houweling PJ. Crossman VG, et al. Stem Cell Res. 2025 Apr;84:103673. doi: 10.1016/j.scr.2025.103673. Epub 2025 Feb 5. Stem Cell Res. 2025. PMID: 39954549 Free article.
To produce an in vitro model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous COL6A1 c.1056 + 2T > A mutation at the exon/intron 14 boundary of the COL6A1 gene to induced pluripotent stem cells ( …
To produce an in vitro model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient …
Atypical keratosis pilaris-like lesions in a patient with Bethlem myopathy.
Lee SS, Hinds B, Sprague J, Barrio VR, Mancuso JB. Lee SS, et al. Pediatr Dermatol. 2022 Mar;39(2):309-311. doi: 10.1111/pde.14862. Epub 2021 Dec 9. Pediatr Dermatol. 2022. PMID: 34888914 Free article.
Bethlem myopathy is a collagen VI-related myopathy. Collagen VI is primarily not only associated with the extracellular matrix of skeletal muscle, but is also found in the skin, blood vessels, and other organs. Dermatologic …
Bethlem myopathy is a collagen VI-related myopathy. Collagen VI is primarily not onl …
Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.
Rusinovich-Lovgach O, Morán L, Toldos-Gonzalez O, Vaquero Martínez M, Cabal-Paz B, Andréu Sánchez JL. Rusinovich-Lovgach O, et al. Reumatol Clin (Engl Ed). 2025 Dec;21(10):501997. doi: 10.1016/j.reumae.2025.501997. Reumatol Clin (Engl Ed). 2025. PMID: 41390234 Free article.
We describe a young man with persistent hyperCKemia and MRI findings initially suggestive of inflammatory myopathy, in whom genetic testing confirmed Bethlem myopathy. This case illustrates how collagen VI-related myopathies can mimic idi …
We describe a young man with persistent hyperCKemia and MRI findings initially suggestive of inflammatory myopathy, in whom genetic testing …
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Ronchi D, Fortunato F, Ciscato P, Velardo D, D'Angelo MG, Gualandi F, Nigro V, Sciacco M, Corti S, Comi GP, Piga D. Zanotti S, et al. Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551. Int J Mol Sci. 2023. PMID: 36982625 Free PMC article.
Recessive and dominant molecular defects cause two main disorders, the severe Ullrich congenital muscular dystrophy and the relatively mild and slowly progressive Bethlem myopathy. ...
Recessive and dominant molecular defects cause two main disorders, the severe Ullrich congenital muscular dystrophy …
56 results