Claeys KG (2020) Congenital myopathies: an update. Dev Med Child Neurol 62:297–302. https://doi.org/10.1111/dmcn.14365

Article  Google Scholar 

Laitila J, Wallgren-Pettersson C (2021) Recent advances in nemaline myopathy. Neuromuscul Disord 31:955–967. https://doi.org/10.1016/j.nmd.2021.07.012

Article  Google Scholar 

Malfatti E, Romero NB (2016) Nemaline myopathies: state of the art. Rev Neurol (Paris) 172:614–619. https://doi.org/10.1016/j.neurol.2016.08.004

Article  CAS  Google Scholar 

Carvalho AAS, Lacene E, Brochier G, Labasse C, Madelaine A, Silva VGD et al (2018) Genetic mutations and demographic, clinical, and morphological aspects of myofibrillar myopathy in a french cohort. Genet Test Mol Biomarkers 22:374–383. https://doi.org/10.1089/gtmb.2018.0004

Article  CAS  Google Scholar 

Evangelista T, Lornage X, Carlier PG, Bassez G, Brochier G, Chanut A et al (2020) A heterozygous mutation in the Filamin C gene causes an unusual nemaline myopathy with ring fibers. J Neuropathol Exp Neurol 79:908–914. https://doi.org/10.1093/jnen/nlaa052

Article  CAS  Google Scholar 

Madigan NN, Polzin MJ, Cui G, Liewluck T, Alsharabati MH, Klein CJ et al (2021) Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype. Acta Neuropathol Commun 9:79. https://doi.org/10.1186/s40478-021-01168-9

Article  CAS  Google Scholar 

Sewry CA, Wallgren-Pettersson C (2017) Myopathology in congenital myopathies. Neuropathol Appl Neurobiol 43:5–23. https://doi.org/10.1111/nan.12369

Article  CAS  Google Scholar 

Naddaf E, Milone M, Kansagra A, Buadi F, Kourelis T (2019) Sporadic late-onset nemaline myopathy: clinical spectrum, survival, and treatment outcomes. Neurology 93:e298–e305. https://doi.org/10.1212/WNL.0000000000007777

Article  Google Scholar 

Schnitzler LJ, Schreckenbach T, Nadaj-Pakleza A, Stenzel W, Rushing EJ, Van Damme P et al (2017) Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. Orphanet J Rare Dis 12:86. https://doi.org/10.1186/s13023-017-0640-2

Article  Google Scholar 

Tanboon J, Uruha A, Arahata Y, Dittmayer C, Schweizer L, Goebel HH et al (2021) Inflammatory features in sporadic late-onset nemaline myopathy are independent from monoclonal gammopathy. Brain Pathol 31:e12962. https://doi.org/10.1111/bpa.12962

Article  CAS  Google Scholar 

Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W et al (2014) Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT. Neurology 83:2133–2139. https://doi.org/10.1212/WNL.0000000000001047

Article  CAS  Google Scholar 

Sewry CA, Laitila JM, Wallgren-Pettersson C (2019) Nemaline myopathies: a current view. J Muscle Res Cell Motil 40:111–126. https://doi.org/10.1007/s10974-019-09519-9

Article  CAS  Google Scholar 

Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C et al (2022) NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy. Acta Neuropathol Commun 10:185. https://doi.org/10.1186/s40478-022-01491-9

Article  CAS  Google Scholar 

Kao JC, Liewluck T, Milone M (2018) A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult. J Clin Neurosci 53:261–262. https://doi.org/10.1016/j.jocn.2018.04.044

Article  CAS  Google Scholar 

Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M (2019) Congenital myopathies in the adult neuromuscular clinic: diagnostic challenges and pitfalls. Neurol Genet 5:e341. https://doi.org/10.1212/NXG.0000000000000341

Article  CAS  Google Scholar 

De Ridder W, De Jonghe P, Straub V, Baets J (2021) High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients. Neuromuscul Disord 31:1154–1160. https://doi.org/10.1016/j.nmd.2021.04.010

Article  Google Scholar 

Engel AG (1997) The muscle biopsy. In: Engel AF-A, C (ed) Myology 2nd edition edn. McGraw-Hill, City, pp 822–831

Arneson-Wissink PC, Ducharme AM, Doles JD (2020) A novel transplantable model of lung cancer-associated tissue loss and disrupted muscle regeneration. Skelet Muscle 10:6. https://doi.org/10.1186/s13395-020-00225-6

Article  CAS  Google Scholar 

Dubey D, Beecher G, Hammami MB, Knight AM, Liewluck T, Triplett J et al (2022) Identification of caveolae-associated protein 4 autoantibodies as a biomarker of immune-mediated rippling muscle disease in adults. JAMA Neurol 79:808–816. https://doi.org/10.1001/jamaneurol.2022.1357

Article  Google Scholar 

Dasgupta A, Shukla SK, Vernucci E, King RJ, Abrego J, Mulder SE et al (2020) SIRT1-NOX4 signaling axis regulates cancer cachexia. J Exp Med. https://doi.org/10.1084/jem.20190745

Article  Google Scholar 

Dasgupta A, Arneson-Wissink PC, Schmitt RE, Cho DS, Ducharme AM, Hogenson TL et al (2022) Anticachectic regulator analysis reveals Perp-dependent antitumorigenic properties of 3-methyladenine in pancreatic cancer. JCI Insight. https://doi.org/10.1172/jci.insight.153842

Article  Google Scholar 

Ayers-Ringler JR, Oliveros A, Qiu Y, Lindberg DM, Hinton DJ, Moore RM et al (2016) Label-free proteomic analysis of protein changes in the striatum during chronic ethanol use and early withdrawal. Front Behav Neurosci 10:46. https://doi.org/10.3389/fnbeh.2016.00046

Article  CAS  Google Scholar 

Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA et al (2005) Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A 102:15545–15550. https://doi.org/10.1073/pnas.0506580102

Article  CAS  Google Scholar 

Dasari S, Theis JD, Vrana JA, Meureta OM, Quint PS, Muppa P et al (2015) Proteomic detection of immunoglobulin light chain variable region peptides from amyloidosis patient biopsies. J Proteome Res 14:1957–1967. https://doi.org/10.1021/acs.jproteome.5b00015

Article  CAS  Google Scholar 

Kourelis TV, Dasari S, Theis JD, Ramirez-Alvarado M, Kurtin PJ, Gertz MA et al (2017) Clarifying immunoglobulin gene usage in systemic and localized immunoglobulin light-chain amyloidosis by mass spectrometry. Blood 129:299–306. https://doi.org/10.1182/blood-2016-10-743997

Article  CAS  Google Scholar 

Tabb DL, Fernando CG, Chambers MC (2007) MyriMatch: highly accurate tandem mass spectral peptide identification by multivariate hypergeometric analysis. J Proteome Res 6:654–661. https://doi.org/10.1021/pr0604054

Article  CAS  Google Scholar 

Bodi K, Prokaeva T, Spencer B, Eberhard M, Connors LH, Seldin DC (2009) AL-Base: a visual platform analysis tool for the study of amyloidogenic immunoglobulin light chain sequences. Amyloid 16:1–8. https://doi.org/10.1080/13506120802676781

Article  CAS  Google Scholar 

Lefranc MP, Lefranc G (2019) IMGT((R)) and 30 Years of Immunoinformatics insight in antibody V and C domain structure and function. Antibodies (Basel). https://doi.org/10.3390/antib8020029

Article  Google Scholar 

Ma ZQ, Dasari S, Chambers MC, Litton MD, Sobecki SM, Zimmerman LJ et al (2009) IDPicker 2.0: Improved protein assembly with high discrimination peptide identification filtering. J Proteome Res 8:3872–3881. https://doi.org/10.1021/pr900360j

Article  CAS  Google Scholar 

Li M, Gray W, Zhang H, Chung CH, Billheimer D, Yarbrough WG et al (2010) Comparative shotgun proteomics using spectral count data and quasi-likelihood modeling. J Proteome Res 9:4295–4305. https://doi.org/10.1021/pr100527g

Article  CAS  Google Scholar 

Becker N, Moore SA, Jones KA (2022) The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies. Acta Neuropathol Commun 10:17. https://doi.org/10.1186/s40478-022-01320-z

Article  CAS  Google Scholar 

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K et al (2019) RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genet Med 21:1629–1638. https://doi.org/10.1038/s41436-018-0360-6

Article  CAS  Google Scholar 

Laflamme N, Lace B, Thonta Setty S, Rioux N, Labrie Y, Droit A et al (2021) A Homozygous deep intronic mutation alters the splicing of nebulin gene in a patient with nemaline myopathy. Front Neurol 12:660113. https://doi.org/10.3389/fneur.2021.660113

Article  Google Scholar 

Kyle RA, Therneau TM, Rajkumar SV, Larson DR, Plevak MF, Offord JR et al (2006) Prevalence of monoclonal gammopathy of undetermined significance. N Engl J Med 354:1362–1369. https://doi.org/10.1056/NEJMoa054494

Article  CAS  Google Scholar 

Malfatti E, Lehtokari VL, Bohm J, De Winter JM, Schaffer U, Estournet B et al (2014) Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. Acta Neuropathol Commun 2:44. https://doi.org/10.1186/2051-5960-2-44

Article  Google Scholar 

Chahin N, Selcen D, Engel AG (2005) Sporadic late onset nemaline myopathy. Neurology 65:1158–1164. https://doi.org/10.1212/01.wnl.0000180362.90078.dc

Article  Google Scholar 

Zhao B, Dai T, Zhao D, Ma X, Zhao C, Li L et al (2022) Clinicopathologic profiles of sporadic late-onset nemaline myopathy: practical importance of anti-alpha-actinin immunostaining. Neurol Neuroimmunol Neuroinflamm. https://doi.org/10.1212/NXI.0000000000001184

Article  Google Scholar 

Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C et al (1995) A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet 9:75–79. https://doi.org/10.1038/ng0195-75

Article  CAS  Google Scholar 

Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R et al (2013) Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. Neuromuscul Disord 23:992–997. https://doi.org/10.1016/j.nmd.2013.07.003

Article  Google Scholar 

Zambon AA, Abel F, Linnane B, O’Rourke D, Phadke R, Sewry CA et al (2022) Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings. Neuromuscul Disord 32:245–254. https://doi.org/10.1016/j.nmd.2022.01.014

Article  Google Scholar 

Vandebrouck A, Domazetovska A, Mokbel N, Cooper ST, Ilkovski B, North KN (2010) In vitro analysis of rod composition and actin dynamics in inherited myopathies. J Neuropathol Exp Neurol 69:429–441. https://doi.org/10.1097/NEN.0b013e3181d892c6

Article  CAS  Google Scholar 

Naddaf E, Dasari S, Selcen D, Charlesworth MC, Johnson KL, Mauermann ML et al (2022) Proteomic profiling of sporadic late-onset nemaline myopathy. Ann Clin Transl Neurol 9:391–402. https://doi.org/10.1002/acn3.51527

Article  CAS  Google Scholar 

Kley RA, Leber Y, Schrank B, Zhuge H, Orfanos Z, Kostan J et al (2021) FLNC-associated myofibrillar myopathy: new clinical, functional, and proteomic data. Neurol Genet 7:e590. https://doi.org/10.1212/NXG.0000000000000590