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Scapuloperoneal myopathy, MYH7-related(SPMM)

MedGen UID:
442146
Concept ID:
CN074265
Disease or Syndrome
Synonyms: Scapuloperoneal muscular dystrophy; Scapuloperoneal syndrome, myopathic type; SPMM
 
Gene (location): MYH7 (14q11.2)
OMIM®: 181430

Recent clinical studies

Etiology

Bonne G, Quijano-Roy S
Handb Clin Neurol 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. PMID: 23622360
Wiltshire KM, Hegele RA, Innes AM, Brownell AK
Neuromuscul Disord 2013 Mar;23(3):265-8. Epub 2013 Jan 11 doi: 10.1016/j.nmd.2012.11.011. [Epub ahead of print] PMID: 23313286
Nigro G, Russo V, Rago A, Papa AA, Carbone N, Marchel M, Palladino A, Hausmanowa-Petrusewicz I, Russo MG, Politano L
Kardiol Pol 2012;70(11):1154-9. PMID: 23180524
Russo V, Rago A, Politano L, Papa AA, Di Meo F, Russo MG, Golino P, Calabrò R, Nigro G
Med Sci Monit 2012 Nov;18(11):CR643-7. PMID: 23111739Free PMC Article
Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I
Scand J Clin Lab Invest 2011 Dec;71(8):658-62. doi: 10.3109/00365513.2011.619272. PMID: 22077867

Diagnosis

Madej-Pilarczyk A
Int J Occup Med Environ Health 2014 Apr;27(2):270-7. Epub 2014 May 17 doi: 10.2478/s13382-014-0247-y. [Epub ahead of print] PMID: 24839233
Bonne G, Quijano-Roy S
Handb Clin Neurol 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. PMID: 23622360
Nigro G, Russo V, Rago A, Papa AA, Carbone N, Marchel M, Palladino A, Hausmanowa-Petrusewicz I, Russo MG, Politano L
Kardiol Pol 2012;70(11):1154-9. PMID: 23180524
Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, Sanchez-Herranz A
Muscle Nerve 2012 Apr;45(4):605-10. doi: 10.1002/mus.22324. PMID: 22431096
Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I
Scand J Clin Lab Invest 2011 Dec;71(8):658-62. doi: 10.3109/00365513.2011.619272. PMID: 22077867

Therapy

Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG
JAMA Neurol 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37. PMID: 25938801Free PMC Article
Tanaka K, Uehara T, Sato K, Amano T, Minematsu K, Toyoda K
Cerebrovasc Dis 2012;33(1):92-3. Epub 2011 Dec 13 doi: 10.1159/000331930. [Epub ahead of print] PMID: 22179395
Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A
Stroke 2003 Apr;34(4):901-8. Epub 2003 Mar 20 doi: 10.1161/01.STR.0000064322.47667.49. [Epub ahead of print] PMID: 12649505
Talkop UA, Talvik I, Sõnajalg M, Sibul H, Kolk A, Piirsoo A, Warzok R, Wulff K, Wehnert MS, Talvik T
Neuromuscul Disord 2002 Nov;12(9):878-81. PMID: 12398842
Ellis JA, Craxton M, Yates JR, Kendrick-Jones J
J Cell Sci 1998 Mar;111 ( Pt 6):781-92. PMID: 9472006

Prognosis

Madej-Pilarczyk A
Int J Occup Med Environ Health 2014 Apr;27(2):270-7. Epub 2014 May 17 doi: 10.2478/s13382-014-0247-y. [Epub ahead of print] PMID: 24839233
Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG
Neuromuscul Disord 2012 Feb;22(2):152-8. Epub 2011 Oct 10 doi: 10.1016/j.nmd.2011.09.001. [Epub ahead of print] PMID: 21993399
Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I
Scand J Clin Lab Invest 2011 Dec;71(8):658-62. doi: 10.3109/00365513.2011.619272. PMID: 22077867
Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokołowska B, Hausmanowa-Petrusewicz I
Clin Chim Acta 2011 Aug 17;412(17-18):1533-8. Epub 2011 May 5 doi: 10.1016/j.cca.2011.04.033. [Epub ahead of print] PMID: 21596026
Takai H, Yamada T, Tada S, Matsumaru I
Interact Cardiovasc Thorac Surg 2010 May;10(5):811-2. Epub 2010 Feb 5 doi: 10.1510/icvts.2009.221671. [Epub ahead of print] PMID: 20139205

Clinical prediction guides

Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M
Hum Mol Genet 2015 Feb 1;24(3):714-26. Epub 2014 Sep 30 doi: 10.1093/hmg/ddu490. [Epub ahead of print] PMID: 25274776Free PMC Article
Dadgar S, Wang Z, Johnston H, Kesari A, Nagaraju K, Chen YW, Hill DA, Partridge TA, Giri M, Freishtat RJ, Nazarian J, Xuan J, Wang Y, Hoffman EP
J Cell Biol 2014 Oct 13;207(1):139-58. doi: 10.1083/jcb.201402079. PMID: 25313409Free PMC Article
Li P, Meinke P, Huong le TT, Wehnert M, Noegel AA
Hum Mutat 2014 Apr;35(4):452-61. Epub 2014 Jan 13 doi: 10.1002/humu.22504. [Epub ahead of print] PMID: 24375709
Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK
Ann Neurol 2011 Jun;69(6):1005-13. Epub 2011 Mar 9 doi: 10.1002/ana.22338. [Epub ahead of print] PMID: 21391237
Ishikawa K, Mimuro M, Tanaka T
Intern Med 2011;50(5):459-62. Epub 2011 Mar 1 PMID: 21372459

Recent systematic reviews

Bonne G, Yaou RB, Béroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa-Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, van der Kooi AJ, Wehnert M
Neuromuscul Disord 2003 Aug;13(6):508-15. PMID: 12899879

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