| H00698 | |
| H number | H00698 |
| Name | Nemaline myopathy |
| Description | Nemaline myopathy (NM) is the most common congenital myopathy inherited in an autosomal dominant or autosomal recessive manner. It is characterized by the presence of rods or nemaline bodies, which are red-purple inclusions in myofibers detected by modified Gomori trichrome technique. The hallmark symptoms are generalized muscle weakness with facial involvement or predominant involvement of proximal limb and respiratory muscles. Currently, NM is classified into six different forms: severe congenital (neonatal) form; Amish NM, intermediate congenital form; typical congenital form; childhood-onset form; and adult-onset (late-onset) form. Mutations in several genes, encoding components of the sarcomeric thin filaments, have been identified. Mutations in ACTA1 and NEB nebulin are the most common. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | (NEM1) TPM3 [HSA:7170] [KO:K09290] (NEM2) NEB [HSA:4703] [KO:K18267] (NEM3) ACTA1 [HSA:58] [KO:K10354] (NEM4) TPM2 [HSA:7169] [KO:K10374] (NEM5) TNNT1 [HSA:7138] [KO:K10372] (NEM6) KBTBD13 [HSA:390594] [KO:K21913] (NEM7) CFL2 [HSA:1073] [KO:K05765] (NEM8) KLHL40 [HSA:131377] [KO:K10473] (NEM9) KLHL41 [HSA:10324] [KO:K10473] (NEM10) LMOD3 [HSA:56203] [KO:K22030] (NEM11) MYPN [HSA:84665] [KO:K22028] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C72.00 ICD-10: G71.2 MeSH: D017696 OMIM: 609284 256030 161800 609285 605355 609273 610687 615348 615731 616165 617336 |
| Reference | PMID:18367042 AUTHORS D'Amico A, Bertini E TITLE Congenital myopathies. JOURNAL Curr Neurol Neurosci Rep 8:73-9 (2008) DOI:10.1007/s11910-008-0012-3 PMID:20301465 AUTHORS North K, Ryan MM TITLE Nemaline Myopathy JOURNAL GeneReviews (1993) PMID:7704029 (NEM1) AUTHORS Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al. TITLE A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. JOURNAL Nat Genet 9:75-9 (1995) DOI:10.1038/ng0195-75 PMID:10051637 (NEM2) AUTHORS Pelin K, Hilpela P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, 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 TITLE Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. JOURNAL Proc Natl Acad Sci U S A 96:2305-10 (1999) DOI:10.1073/pnas.96.5.2305 PMID:10508519 (NEM3) AUTHORS Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hubner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Muller CR, Nurnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG TITLE Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. JOURNAL Nat Genet 23:208-12 (1999) DOI:10.1038/13837 PMID:11738357 (NEM4) AUTHORS Donner K, Ollikainen M, Ridanpaa M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C TITLE Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. JOURNAL Neuromuscul Disord 12:151-8 (2002) DOI:10.1016/s0960-8966(01)00252-8 PMID:10952871 (NEM5) AUTHORS Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schaffer AA, Francomano CA, Biesecker LG TITLE A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. JOURNAL Am J Hum Genet 67:814-21 (2000) DOI:10.1086/303089 PMID:21109227 (NEM6) AUTHORS Sambuughin N, Yau KS, Olive M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG TITLE Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. JOURNAL Am J Hum Genet 87:842-7 (2010) DOI:10.1016/j.ajhg.2010.10.020 PMID:17160903 (NEM7) AUTHORS Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH TITLE Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. JOURNAL Am J Hum Genet 80:162-7 (2007) DOI:10.1086/510402 PMID:23746549 (NEM8) AUTHORS 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 TITLE Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. JOURNAL Am J Hum Genet 93:6-18 (2013) DOI:10.1016/j.ajhg.2013.05.004 PMID:24268659 (NEM9) AUTHORS Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH TITLE Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. JOURNAL Am J Hum Genet 93:1108-17 (2013) DOI:10.1016/j.ajhg.2013.10.020 PMID:25250574 (NEM10) AUTHORS Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerriere A, Gregorio CC, Ottenheijm CA, Bonnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF TITLE Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. JOURNAL J Clin Invest 124:4693-708 (2014) DOI:10.1172/JCI75199 PMID:28017374 (NEM11) AUTHORS Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N TITLE Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. JOURNAL Am J Hum Genet 100:169-178 (2017) DOI:10.1016/j.ajhg.2016.11.017 |