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Miyoshi myopathy

MedGen UID:
1790866
Concept ID:
C5553104
Disease or Syndrome
Synonyms: Miyoshi distal myopathy; Miyoshi muscular dystrophy; Muscular dystrophy, distal, late onset, autosomal recessive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009685
OMIM®: 254130
OMIM® Phenotypic series: PS254130
Orphanet: ORPHA45448

Definition

A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMiyoshi myopathy

Professional guidelines

PubMed

Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A
Neurogenetics 2023 Jan;24(1):43-53. Epub 2022 Dec 29 doi: 10.1007/s10048-022-00707-3. PMID: 36580222
Martins E, Silva-Cardoso J, Silveira F, Nadais G, Gonçalves FR
Rev Port Cardiol 2005 Jan;24(1):23-35. PMID: 15773664

Recent clinical studies

Etiology

Bardakov SN, Titova AA, Nikitin SS, Nikitins V, Sokolova MO, Tsargush VA, Yuhno EA, Vetrovoj OV, Carlier PG, Sofronova YV, Isaev АА, Deev RV
BMC Musculoskelet Disord 2024 Feb 16;25(1):146. doi: 10.1186/s12891-024-07270-y. PMID: 38365661Free PMC Article
Ivanova A, Smirnikhina S, Lavrov A
Clin Genet 2022 Dec;102(6):465-473. Epub 2022 Sep 6 doi: 10.1111/cge.14216. PMID: 36029111
Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V; Jain COS Consortium
Neuromuscul Disord 2021 Apr;31(4):265-280. Epub 2021 Jan 21 doi: 10.1016/j.nmd.2021.01.009. PMID: 33610434
Fanin M, Angelini C
Muscle Nerve 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. PMID: 27501525
Bansal D, Campbell KP
Trends Cell Biol 2004 Apr;14(4):206-13. doi: 10.1016/j.tcb.2004.03.001. PMID: 15066638

Diagnosis

Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V; Jain COS Consortium
Neuromuscul Disord 2021 Apr;31(4):265-280. Epub 2021 Jan 21 doi: 10.1016/j.nmd.2021.01.009. PMID: 33610434
Patel NJ, Van Dyke KW, Espinoza LR
Am J Med Sci 2017 May;353(5):484-491. Epub 2016 May 30 doi: 10.1016/j.amjms.2016.05.024. PMID: 28502335
Fanin M, Angelini C
Muscle Nerve 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. PMID: 27501525
Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N
Neurol India 2008 Jul-Sep;56(3):289-97. doi: 10.4103/0028-3886.43447. PMID: 18974555
Udd B, Griggs R
Curr Opin Neurol 2001 Oct;14(5):561-6. doi: 10.1097/00019052-200110000-00003. PMID: 11562566

Therapy

Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL
J Neuromuscul Dis 2022;9(4):477-492. doi: 10.3233/JND-210771. PMID: 35527561Free PMC Article
Shimo T, Maruyama R, Yokota T
Methods Mol Biol 2018;1687:143-155. doi: 10.1007/978-1-4939-7374-3_10. PMID: 29067661
Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T
Am J Pathol 2014 Jun;184(6):1668-76. Epub 2014 Mar 29 doi: 10.1016/j.ajpath.2014.02.005. PMID: 24685690
Touznik A, Lee JJ, Yokota T
Expert Opin Biol Ther 2014 Jun;14(6):809-19. Epub 2014 Mar 12 doi: 10.1517/14712598.2014.896335. PMID: 24620745
Hattori H, Nagata E, Oya Y, Takahashi T, Aoki M, Ito D, Suzuki N
Eur J Neurol 2007 Nov;14(11):1288-91. Epub 2007 Sep 14 doi: 10.1111/j.1468-1331.2007.01958.x. PMID: 17868276

Prognosis

Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V; Jain COS Consortium
Neuromuscul Disord 2023 Feb;33(2):199-207. Epub 2023 Jan 6 doi: 10.1016/j.nmd.2023.01.001. PMID: 36689846
Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K; Jain COS Consortium, Bourke J, Straub V
Muscle Nerve 2022 May;65(5):531-540. Epub 2022 Mar 5 doi: 10.1002/mus.27524. PMID: 35179231Free PMC Article
Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, Nigro V
J Biol Chem 2011 Feb 18;286(7):5404-13. Epub 2010 Nov 30 doi: 10.1074/jbc.M110.173559. PMID: 21119217Free PMC Article
Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N
Hum Mutat 2005 Aug;26(2):165. doi: 10.1002/humu.9355. PMID: 16010686
Saito A, Higuchi I, Nakagawa M, Saito M, Hirata K, Suehara M, Yoshida Y, Takahashi T, Aoki M, Osame M
Acta Neuropathol 2002 Dec;104(6):615-20. Epub 2002 Jul 19 doi: 10.1007/s00401-002-0593-x. PMID: 12410383

Clinical prediction guides

Zhou J, Zhou R, Feng Q, Song X, Chen X
Gene 2024 Jan 30;893:147929. Epub 2023 Oct 29 doi: 10.1016/j.gene.2023.147929. PMID: 38381504
Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V; Jain COS Consortium
Neuromuscul Disord 2023 Feb;33(2):199-207. Epub 2023 Jan 6 doi: 10.1016/j.nmd.2023.01.001. PMID: 36689846
Park HJ, Hong YB, Hong JM, Yun U, Kim SW, Shin HY, Kim SM, Choi YC
Clin Genet 2021 Mar;99(3):396-406. doi: 10.1111/cge.13887. PMID: 33215690
Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T
Am J Pathol 2014 Jun;184(6):1668-76. Epub 2014 Mar 29 doi: 10.1016/j.ajpath.2014.02.005. PMID: 24685690
Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M
Mol Med 2011 Sep-Oct;17(9-10):875-82. Epub 2011 May 6 doi: 10.2119/molmed.2011.00084. PMID: 21556485Free PMC Article

Recent systematic reviews

Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL
J Neuromuscul Dis 2022;9(4):477-492. doi: 10.3233/JND-210771. PMID: 35527561Free PMC Article

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