Ahmed SM (2017) Consanguineous marriage among Egyptian youth: secondary analysis of survey of young people in Egypt, 2014. Egypt J Commun Med 35(2):85–94. https://doi.org/10.21608/ejcm.2017.3571

Article  Google Scholar 

Allamand V, Merlini L, Bushby K (2010) 166th ENMC International workshop on collagen type VI-related myopathies, 22–24 May 2009, Naarden, The Netherlands. Neuromuscul Disord 20(5):346–354. https://doi.org/10.1016/j.nmd.2010.02.012

Article  PubMed  Google Scholar 

Bardakov SN, Deev RV, Magomedova RM, Umakhanova ZR, Allamand V, Gartioux C, Zulfugarov KZ, Akhmedova PG, Tsargush VA, Titova AA, Mavlikeev MO, Zorin VL, Chernets EN, Dalgatov GD, Konovalov FA, Isaev AA (2021) Intrafamilial phenotypic variability of collagen VI-related myopathy due to a new mutation in the COL6A1 gene. J Neuromuscul Dis 8(2):273–285. https://doi.org/10.3233/jnd-200476

Article  PubMed Central  PubMed  Google Scholar 

Bönnemann CG (2011) The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 7(7):379–390. https://doi.org/10.1038/nrneurol.2011.81

Article  PubMed Central  CAS  PubMed  Google Scholar 

Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN (2014) Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 24(4):289–311. https://doi.org/10.1016/j.nmd.2013.12.011

Article  PubMed Central  PubMed  Google Scholar 

Bozorgmehr B, Kariminejad A, Nafissi S, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand V, Richard P, Kariminejad MH (2013) Ullrich congenital muscular dystrophy (UCMD): clinical and genetic correlations. Iran J Child Neurol 7(3):15–22

PubMed Central  PubMed  Google Scholar 

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet P-Y, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V (2010) Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol 68(4):511–520. https://doi.org/10.1002/ana.22087

Article  CAS  PubMed  Google Scholar 

Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG (2013) Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat 34(11):1558–1567. https://doi.org/10.1002/humu.22429

Article  PubMed Central  CAS  PubMed  Google Scholar 

Choi Y, Chan AP (2015) PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics 31(16):2745–2747. https://doi.org/10.1093/bioinformatics/btv195

Article  PubMed Central  CAS  PubMed  Google Scholar 

Cruz S, Figueroa-Bonaparte S, Gallardo E, de Becdelievre A, Gartioux C, Allamand V, Piñol P, Garcia MAR, Jiménez-Mallebriera C, Llauger J, González-Rodríguez L, Cortes-Vicente E, Illa I, Díaz-Manera J (2016) Bethlem myopathy phenotypes and follow up: description of 8 patients at the mildest end of the spectrum. J Neuromuscul Dis 3:267–274. https://doi.org/10.3233/JND-150135

Article  PubMed  Google Scholar 

Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG (2011) Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol 69(1):206–211. https://doi.org/10.1002/ana.22283

Article  PubMed Central  CAS  PubMed  Google Scholar 

Inoue M, Saito Y, Yonekawa T, Ogawa M, Iida A, Nishino I, Noguchi S (2021) Causative variant profile of collagen VI-related dystrophy in Japan. Orphanet J Rare Dis 16(1):284. https://doi.org/10.1186/s13023-021-01921-2

Article  PubMed Central  PubMed  Google Scholar 

Kwong AK, Zhang Y, Ho RS, Gao Y, Ling X, Tsang MH, Luk HM, Chung BH, Bönnemann CG, Javed A, Chan SH (2023) Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study. Neuromuscul Disord 33(5):371–381. https://doi.org/10.1016/j.nmd.2023.03.003

Article  PubMed  Google Scholar 

Lamandé SR, Bateman JF (2018) Collagen VI disorders: insights on form and function in the extracellular matrix and beyond. Matrix Biol 71–72:348–367. https://doi.org/10.1016/j.matbio.2017.12.008

Article  CAS  PubMed  Google Scholar 

Lampe AK, Zou Y, Sudano D, O’Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang R-Z, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu M-L, Muntoni F, Bushby KMD, Bönnemann CG (2008) Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat 29(6):809–822. https://doi.org/10.1002/humu.20704

Article  CAS  PubMed  Google Scholar 

Lee JH, Shin HY, Park HJ, Kim SH, Kim SM, Choi YC (2017) Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea. J Clin Neurol 13(4):331–339. https://doi.org/10.3988/jcn.2017.13.4.331

Article  PubMed Central  PubMed  Google Scholar 

Li C, Zhi D, Wang K, Liu X (2022) MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning. Genome Med 14(1):115. https://doi.org/10.1186/s13073-022-01120-z

Article  PubMed Central  CAS  PubMed  Google Scholar 

Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, Galatolo D, Gallone S, Giannini F, Lopergolo D, Maioli MA, Magri F, Malandrini A, Mandich P, Mari F, Massa R, Mata S, Melani F, Moggio M, Mongini TE, Pasquariello R, Pegoraro E, Ricci F, Ricci G, Rodolico C, Rubegni A, Siciliano G, Sperti M, Ticci C, Tonin P, Santorelli FM, Battini R (2022) A schematic approach to defining the prevalence of COL VI variants in five years of next-generation sequencing. Int J Mol Sci 23(23):14567. https://doi.org/10.3390/ijms232314567

Article  PubMed Central  CAS  PubMed  Google Scholar 

Di Martino A, Cescon M, D’Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C (2023) Collagen VI in the musculoskeletal system. Int J Mol Sci 24(6). https://doi.org/10.3390/ijms24065095

Morel V, Audic F, Tardy C, Verschueren A, Attarian S, Nguyen K, Salort-Campana E, Krahn M, Chabrol B, Gorokhova S (2023) Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center. Front Genet 14:1242277. https://doi.org/10.3389/fgene.2023.1242277

Article  PubMed Central  CAS  PubMed  Google Scholar 

Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Jessica Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A (2021) Association of initial maximal motor ability with long-term functional outcome in patients with COL6-related dystrophies. Neurology 96(10):e1413–e1424. https://doi.org/10.1212/wnl.0000000000011499

Article  PubMed Central  CAS  PubMed  Google Scholar 

Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V (2009) Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 132(Pt 11):3175–3186. https://doi.org/10.1093/brain/awp236

Article  PubMed  Google Scholar 

Picillo E, Torella A, Passamano L, Nigro V, Politano L (2022) Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report. Acta Myol 41(2):95–98. https://doi.org/10.36185/2532-1900-073

Article  PubMed Central  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed Central  PubMed  Google Scholar 

Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11(4):361–362. https://doi.org/10.1038/nmeth.2890

Article  CAS  PubMed  Google Scholar 

Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133(1):1–9. https://doi.org/10.1007/s00439-013-1358-4

Article  CAS