1. Barresi R, Campbell KP. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci. 2006;119(2):199-207. [
DOI:10.1242/jcs.02814] [
PMID]
2. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature. 1992;355(6362):696-702. [
DOI:10.1038/355696a0] [
PMID]
3. Muntoni F, Torelli S, Brockington M. Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 2008;5(4):627-32. [
DOI:10.1016/j.nurt.2008.08.005] [
PMID] [
PMCID]
4. Bharucha-Goebel DX, Neil E, Donkervoort S, Dastgir J, Wiggs E, Winder TL, et al. Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. Neurology. 2015;84(14):1495-7. [
DOI:10.1212/WNL.0000000000001440] [
PMID] [
PMCID]
5. Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24(4):289-311. [
DOI:10.1016/j.nmd.2013.12.011] [
PMID] [
PMCID]
6. Brown SC, Winder SJ, Group EDgS. The 220th ENMC workshop: Dystroglycan and the Dystroglycanopathies held on the 27-29 May 2016, Naarden, The Netherlands. Neuromuscul Disord. 2017;27(4):387-95. [
DOI:10.1016/j.nmd.2016.12.010] [
PMID]
7. Chiba A, Matsumura K, Yamada H, Inazu T, Shimizu T, Kusunoki S, et al. Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve α-dystroglycan: the role of a novel O-mannosyl-type oligosaccharide in the binding of α-dystroglycan with laminin. J Biol Chem. 1997;272(4):2156-62. [
DOI:10.1074/jbc.272.4.2156] [
PMID]
8. Wells L. The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem. 2013;288(10):6930-5. [
DOI:10.1074/jbc.R112.438978] [
PMID] [
PMCID]
9. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol. 2014;33(1):1.
10. Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet. 2013;93(1):29-41. [
DOI:10.1016/j.ajhg.2013.05.009] [
PMID] [
PMCID]
11. Maeda Y, Kinoshita T. Dolichol-phosphate mannose synthase: structure, function and regulation. Biochim Biophys Acta (BBA)-General Subj. 2008;1780(6):861-8. [
DOI:10.1016/j.bbagen.2008.03.005] [
PMID]
12. Raphael AR, Couthouis J, Sakamuri S, Siskind C, Vogel H, Day JW, et al. Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. Brain Res. 2014;1575:66-71. [
DOI:10.1016/j.brainres.2014.04.028] [
PMID] [
PMCID]
13. O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, et al. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Ann Neurol. 2016;80(1):101-11. [
DOI:10.1002/ana.24687] [
PMID]
14. Mohamadian M, Rastegar M, Pasamanesh N, Ghadiri A, Ghandil P, Naseri M. Clinical and molecular spectrum of muscular dystrophies (MDs) with intellectual disability (ID): A comprehensive overview. J Mol Neurosci. 2022;1-15. [
DOI:10.1007/s12031-021-01933-4] [
PMID]
15. Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, et al. Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. J Neurol Neurosurg Psychiatry. 2018;89(7):762-8. [
DOI:10.1136/jnnp-2017-316956] [
PMID]
16. Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, et al. Expanding the phenotype of GMPPB mutations. Brain. 2015;138(4):836-44. [
DOI:10.1093/brain/awv013] [
PMID]
17. Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, et al. GMPPB‐associated dystroglycanopathy: emerging common variants with phenotype correlation. Hum Mutat. 2015;36(12):1159-63. [
DOI:10.1002/humu.22898] [
PMID] [
PMCID]
18. Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. 2015;138(9):2493-504. [
DOI:10.1093/brain/awv185] [
PMID] [
PMCID]
19. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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. 2015;17(5):405-23. [
DOI:10.1038/gim.2015.30] [
PMID] [
PMCID]
20. Cruz PMR, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL, et al. Clinical features of the myasthenic syndrome arising from mutations in GMPPB. J Neurol Neurosurg Psychiatry. 2016;87(8):802-9. [
DOI:10.1136/jnnp-2016-313163] [
PMID] [
PMCID]
21. Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, et al. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscul Disord. 2017;27(12):1087-98. [
DOI:10.1016/j.nmd.2017.08.003] [
PMID]
22. Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014;94(2):161-75. [
DOI:10.1016/j.ajhg.2013.10.024] [
PMID] [
PMCID]
23. Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell. 1991;66(6):1121-31. [
DOI:10.1016/0092-8674(91)90035-W] [
PMID]
24. Polavarapu K, Mathur A, Joshi A, Nashi S, Preethish-Kumar V, Bardhan M, et al. A founder mutation in the GMPPB gene [c. 1000G> A (p. Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Neurogenetics. 2021;22(4):271-85. [
DOI:10.1007/s10048-021-00658-1] [
PMID]
25. Tian W, Zhou H, Zhan F, Zhu Z, Yang J, Chen S, et al. Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T. Ann Clin Transl Neurol. 2019;6(6):1062-71. [
DOI:10.1002/acn3.787] [
PMID] [
PMCID]
26. Chompoopong P, Milone M. GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders. Genes (Basel). 2023;14(2):372. [
DOI:10.3390/genes14020372] [
PMID] [
PMCID]
27. Parsamanesh N,Ahmadi Shadmehri A,Zarifi s,Miri-Moghaddam E.Identification of the proximal biogenesis factor 1 gene point mutation in an Iranian family with Zellwear syndrome(ZS).J Adv Med Biomed Res.2021;29(134):167-75. [
DOI:10.30699/jambs.29.134.167]
28. Mohammadi Asl J,Shahbazian H,Jasemi Zargari F,Kheradmand A.Identification of a novel CLCNKB mutation in an Iranian Family with Bartter syndrome Type 3.J Adv Med Biomed Res.2022;30(139)185-9. [
DOI:10.30699/jambs.30.139.185]
29. Balcin H, Palmio J, Penttilä S, Nennesmo I, Lindfors M, Solders G, et al. Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. Neuromuscul Disord. 2017;27(7):627-30. [
DOI:10.1016/j.nmd.2017.04.006] [
PMID]
30. Gonzalez-Perez P, Smith C, Sebetka WL, Gedlinske A, Perlman S, Mathews KD. Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant). Neuromuscul Disord. 2020;30(3):213-8. [
DOI:10.1016/j.nmd.2020.01.002] [
PMID] [
PMCID]
31. Panicucci C, Fiorillo C, Moro F, Astrea G, Brisca G, Trucco F, et al. Mutations in GMPPB presenting with pseudometabolic myopathy. JIMD Reports, Vol 38. 2018;23-31. [
DOI:10.1007/8904_2017_25] [
PMID] [
PMCID]
32. Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, et al. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet J Rare Dis. 2018;13(1):1-9. [
DOI:10.1186/s13023-018-0863-x] [
PMID] [
PMCID]
33. Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, et al. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: A nationwide study. J Neurol. 2023;270(2):909-16. [
DOI:10.1007/s00415-022-11440-0] [
PMID] [
PMCID]
34. Sun L, Shen D, Xiong T, Zhou Z, Lu X, Cui F. Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. Bosn J basic Med Sci. 2020;20(2):275. [
DOI:10.17305/bjbms.2019.3992]
35. Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, et al. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clin Genet. 2021;99(3):384-95. [
DOI:10.1111/cge.13886] [
PMID]
36. Fecarotta S, Gragnaniello V, Della Casa R, Romano A, Raiano E, Torella A, et al. Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report. Neuromuscul Disord. 2018;28(11):956-60. [
DOI:10.1016/j.nmd.2018.07.001] [
PMID]
37. Luo S, Cai S, Maxwell S, Yue D, Zhu W, Qiao K, et al. Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. Neuromuscul Disord. 2017;27(6):557-64. [
DOI:10.1016/j.nmd.2017.03.004] [
PMID]
38. Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, et al. Congenital myasthenic syndrome in China: genetic and myopathological characterization. Ann Clin Transl Neurol. 2021;8(4):898-907. [
DOI:10.1002/acn3.51346] [
PMID] [
PMCID]