Nemaline Myopathy group

Publications from our group

2025

• Lehtokari VL, Similä M, Tammepuu M, Isohanni P, Auranen M, Hiekkala S, Wallgren-Pettersson C, Strang-Karlsson S: Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study. Journal of Neuromuscular Diseases. 2025;12(1). doi:10.1177/22143602241303374

2024

• Laitila J, Seaborne RAE, Ranu N, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Zanoteli E, Palmio J, Huovinen S, Granzier H, Ochala J.: Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle. J Physiol. 2024 Oct;602(20):5229-5245. doi: 10.1113/JP286870. Epub 2024 Aug 31. PMID: 39216086.
• Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C: A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. Neuromuscul Disord. 2024 Jan;34:32-40. doi: 10.1016/j.nmd.2023.11.009. Epub 2023 Nov 30. PMID: 38142473.
• Wallgren-Pettersson C, Jokela M, Lehtokari VL, Tyynismaa H, Sainio MT, Ylikallio E, Tynninen O, Pelin K, Auranen M: Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia. Neuromuscul Disord. 2024 Feb;35:29-32. doi: 10.1016/j.nmd.2023.12.006. Epub 2023 Dec 15. PMID: 38219297.
• Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J: Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield. Sci Rep. 2024 Feb 21;14(1):4306. doi: 10.1038/s41598-024-54866-4. PMID: 38383731; PMCID: PMC10881483.

2023

• Lehtokari VL, Similä M, Tammepuu M, Wallgren-Pettersson C, Strang-Karlsson S, Hiekkala S: Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study. Orphanet J Rare Dis. 2023 Nov 30;18(1):374.
• Pelin K, Sagath L, Lehtonen J, Kiiski K, Tynninen O, Paetau A, Johari M, Savarese M, Wallgren-Pettersson C, Lehtokari VL: Novel compound heterozygous splice-site variants in TPM3 revealed by RNA sequencing in a patient with an unusual form of nemaline myopathy: a case report. J Neuromuscul Dis. 2023;10(5):977-984.

2022

• Sagath L, Lehtokari VL, Pelin K, Kiiski K: Array Comparative Genomic Hybridisation and Droplet Digital PCR uncover recurrent copy number variation of the TTN segmental duplication region. Genes;13(5):905.
• Sagath L, Lehtokari VL, Wallgren-Pettersson C, Pelin K, Kiiski K: A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region. PLoS One;17(5):e0267793.
• Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J: NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy. Acta Neuropathol Commun. 2022 Dec 17;10(1):185.

2021

• Laitila J, Wallgren-Pettersson C: Recent advances in nemaline myopathy. Neuromuscul Disord. 2021;31(10):P955-967.
• Sagath L*, Lehtokari VL*, Välipakka S, Vihola A, Gardberg M, Hackman P, Pelin K, Jokela M, Kiiski K, Udd B, Wallgren-Pettersson C: Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin. Neuromuscul Disord. 2021;31(6):539-545.
• Pelin K: Genetics of the Congenital Myopathies. eLS. 2021;2:1-9.

2020

• Laitila J, McNamara EL, Wingate CD, Goullee H, Ross JA, Taylor RL, van der Pijl R, Griffiths L, Harries R, Ravenscroft G, Clayton JS, Sewry C, Lawlor MW, Ottenheijm CAC, Bakker AJ, Ochala J, Laing NG, Wallgren-Pettersson C, Pelin K, Nowak KJ: Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. Acta Neuropathol Commun. 2020;8(1):18.

2019

• Laitila J, Lehtonen J, Lehtokari VL, Sagath L, Wallgren-Pettersson C, Grönholm M, Pelin K: A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region. Muscle Nerve. 2019;59(1):116-121.
• Clarke AJ, Wallgren-Pettersson C: Ethics in genetic counselling. J Community Genet. 2019;10(1):3-33.
• Pelin K, Wallgren-Pettersson C: Update on the Genetics of Congenital Myopathies. Semin Pediatr Neurol. 2019;29:12-22.
• Sewry CA, Laitila J, Wallgren-Pettersson C: Nemaline myopathies: a current view J Muscle Res Cell Motil. 2019;40(2):111-126.
• Kiiski K*, Lehtokari VL*, Vihola A, Laitila J, Huovinen S, Sagath L, Evilä A, Paetau A, Sewry C, Hackman P, Pelin K, Wallgren-Pettersson C, Udd B: Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. NMD. 2019;29(2):97-107.
• Rudnik-Schöneborn S, Wallgren-Pettersson C: Pregnancy and Delivery in Women With Congenital Myopathies. Semin Pediatr Neurol. 2019;29:23-29.

2018

• Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K: An extended targeted copy number variation detection array including 187 genes for the diagnostics of neuromuscular disorders. J Neuromuscul Dis. 2018;5(3):307-314.
• Lehtokari VL, Gardberg M, Pelin K, Wallgren-Pettersson C: Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene. Neuromuscul Disord. 2018;28:323-326.

2010 - 2017

• Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K: A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. Eur J Hum Genet. 2016;24(4):574-580.
• Pelin K, Kiiski K, Lehtokari VL, Wallgren-Pettersson C: A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. J Hum Genet. 2015;60:161-162.
• Kiiski K, Lehtokari VL, Manzur AY, Seqry C, Zaharieva I, Muntoni F, Pelin K, Wallgren-Pettersson C: A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy. J Neuromuscul Dis. 2015;2:433-438.
• Lehtokari V-L, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs A, Clarke NF, North KN, Laing, NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C: Mutation update: the spectrum of nebulin variants and associated myopathies. Human Mutat. 2014;35:1418-1426.
• Marttila M*, Hanif M*, Lemola E, Nowak KJ, Laitila J, Grönholm M, Wallgren-Pettersson C, Pelin K: Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. Skelet Muscle. 2014;4:15.
• Marttila M, Lehtokari V-L, Marston, S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy Ö, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, Taratuto A, de Visser M, Wilichowski E, Winer JB, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C: Genotype-phenotype correlations for novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Human Mutation 2014;35:779-90.
• Kiiski K, Laari L, Lehtokari V-L, Lunkka-Hytönen M, Angelini C, Petty R, Hackman P, Wallgren-Pettersson C, Pelin K: Targeted array CGH - a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes. Neuromuscul. Disord. 2013;23:56-65.
• Ravenscroft G*, Miyatake S*, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG: Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet. 2013;93:6-18
• Laitila J*, Hanif M*, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K: Expression of multiple nebulin isoforms in human brain. Muscle & Nerve. 2012;46:730-737.
• Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul. Disord. 2011;21:556-562.

2000 - 2009

• Lehtokari V-L*, Greenleaf RS*, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C: The exon 55 deletion in the nebulin gene - one single founder mutation with world-wide occurrence. Neuromuscul. Disord. 2009;19:179-181.
• Romero NB*, Lehtokari VL*, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C. Core-rod myopathy caused by mutations in the nebulin gene. Neurology. 2009;73(14):1159-61.
• Pelin K, Wallgren-Pettersson C: Nebulin - a giant chameleon. Adv Exp Med Biol. 2008;642:28-39.
• Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloğlu H, Laing NG, Wallgren-Pettersson C: Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet. 2008;16:1055-1061.
• Wallgren-Pettersson C, Lehtokari V-L, Kalimo H, Paetau A, Hackman P, Sewry C, Pelin K, Udd B: Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007;130:1465-1476.
• Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C: Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord. 2007;17:433-442.
• Donner K, Nowak KJ, Aro M, Pelin K, Wallgren-Pettersson C: Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128. Genomics. 2006;88:489-95.
• Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C: Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy Hum Mutat. 2006;27:946-956.
• Donner K, Sandbacka M, Lehtokari V-L, Wallgren-Pettersson C, Pelin K: Complete genomic structure of the human nebulin gene and identification of alternatively spliced isoforms. Eur. J. Hum. Genet. 2004;12:744-51.
• Pelin K, Donner K, Holmberg M, Jungblut H, Muntoni F, Wallgren-Pettersson C: Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscul Disord. 2002;12:680-686.
• Wallgren-Pettersson C, Donner K, Sewry C, Bijlsma E, Lammens M, Bushby K, Giovannucci Uzielli ML, Lapi E, Odent S, Akcoren Z, Topaloğlu, Pelin K: Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord. 2002;12;674-679.
• Donner K, Ollikainen M, Ridanpää M, Christen H-J, Goebel HH, de Visser M, Pelin K, Wallgren Pettersson C: Mutations in the β-tropomyosin (TPM2) gene - a rare cause of nemaline myopathy. Neuromuscul. Disord. 2002;12:151-158.

Pre 2000

• Pelin K, Hilpelä P, Sewry C , Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang M-L, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc. Natl. Acad. Sci. USA 1999;96:2305-2310
• Wallgren-Pettersson C, Pelin K, Hilpelä, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A: Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 1999;9:564-572.
• Wallgren-Pettersson C: Genetics of the nemaline myopathies and the myotubular myopathies. Neuromuscul Disord. 1998;8:401-4.
• Wallgren-Pettersson C, Kääriäinen H, Rapola J, Salmi T, Jääskeläinen J, Donner M: Genetics of congenital nemaline myopathy: a study of 10 families. J Med Genet. 1990;27:480-487.