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Hereditary inclusion-body myopathy

MedGen UID:
1843174
•Concept ID:
C5680794
•
Disease or Syndrome
Synonym: Inclusion myopathy
 
Monarch Initiative: MONDO:0016112
Orphanet: ORPHA206662

Professional guidelines

PubMed

Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmüller H
Neuromuscul Disord 2018 Feb;28(2):158-168. Epub 2017 Nov 14 doi: 10.1016/j.nmd.2017.11.001. PMID: 29305133Free PMC Article
Genetic screening in the Persian Jewish community: A pilot study.
Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL
Genet Med 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b. PMID: 20733503
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
Malicdan MC, Noguchi S, Nishino I
Curr Opin Neurol 2008 Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595. PMID: 18769255

Recent clinical studies

Etiology

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze JF, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M, Krahn M
Muscle Nerve 2017 Nov;56(5):993-997. Epub 2017 Apr 7 doi: 10.1002/mus.25638. PMID: 28256728
Hereditary inclusion-body myopathies.
Broccolini A, Mirabella M
Biochim Biophys Acta 2015 Apr;1852(4):644-50. Epub 2014 Aug 19 doi: 10.1016/j.bbadis.2014.08.007. PMID: 25149037
The hereditary inclusion body myopathy enigma and its future therapy.
Argov Z, Mitrani-Rosenbaum S
Neurotherapeutics 2008 Oct;5(4):633-7. doi: 10.1016/j.nurt.2008.07.004. PMID: 19019317Free PMC Article
Distal myopathies.
Mastaglia FL, Lamont PJ, Laing NG
Curr Opin Neurol 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. PMID: 16155432
Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review.
Darvish D
Med Hypotheses 2003 Jan;60(1):94-101. doi: 10.1016/s0306-9877(02)00339-0. PMID: 12450772

Diagnosis

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
Carrillo N, Malicdan MC, Huizing M
Neurotherapeutics 2018 Oct;15(4):900-914. doi: 10.1007/s13311-018-0671-y. PMID: 30338442Free PMC Article
The hereditary inclusion body myopathy enigma and its future therapy.
Argov Z, Mitrani-Rosenbaum S
Neurotherapeutics 2008 Oct;5(4):633-7. doi: 10.1016/j.nurt.2008.07.004. PMID: 19019317Free PMC Article
NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.
Ricci E, Broccolini A, Gidaro T, Morosetti R, Gliubizzi C, Frusciante R, Di Lella GM, Tonali PA, Mirabella M
Neurology 2006 Mar 14;66(5):755-8. doi: 10.1212/01.wnl.0000200956.76449.3f. PMID: 16534119
Distal myopathies.
Mastaglia FL, Lamont PJ, Laing NG
Curr Opin Neurol 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. PMID: 16155432
Welander distal myopathy--an overview.
Borg K, Ahlberg G, Anvret M, Edström L
Neuromuscul Disord 1998 Apr;8(2):115-8. doi: 10.1016/s0960-8966(98)00008-x. PMID: 9608565

Therapy

Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
Khademian H, Mehravar E, Urtizberea J, Sagoo S, Sandoval L, Carbajo R, Darvish B, Valles-Ayoub Y, Darvish D
Clin Genet 2013 Dec;84(6):589-92. Epub 2013 Feb 21 doi: 10.1111/cge.12086. PMID: 23278550
Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex.
Nemunaitis G, Jay CM, Maples PB, Gahl WA, Huizing M, Yardeni T, Tong AW, Phadke AP, Pappen BO, Bedell C, Allen H, Hernandez C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J
Hum Gene Ther 2011 Nov;22(11):1331-41. Epub 2011 Apr 25 doi: 10.1089/hum.2010.192. PMID: 21517694Free PMC Article
Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy.
Nemunaitis G, Maples PB, Jay C, Gahl WA, Huizing M, Poling J, Tong AW, Phadke AP, Pappen BO, Bedell C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J
J Gene Med 2010 May;12(5):403-12. doi: 10.1002/jgm.1450. PMID: 20440751
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA
BMC Neurol 2007 Jan 29;7:3. doi: 10.1186/1471-2377-7-3. PMID: 17261181Free PMC Article
Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review.
Darvish D
Med Hypotheses 2003 Jan;60(1):94-101. doi: 10.1016/s0306-9877(02)00339-0. PMID: 12450772

Prognosis

Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M
Hum Mutat 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. PMID: 24796702Free PMC Article
A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1.
Lu Y, Li X, Wang M, Li X, Zhang F, Li Y, Zhang M, Da Y, Yu J, Jia J
PLoS One 2012;7(6):e39288. Epub 2012 Jun 18 doi: 10.1371/journal.pone.0039288. PMID: 22723986Free PMC Article
Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
Broccolini A, Gidaro T, Morosetti R, Sancricca C, Mirabella M
Acta Myol 2011 Oct;30(2):91-5. PMID: 22106710Free PMC Article
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy.
Broccolini A, Gidaro T, Morosetti R, Mirabella M
Muscle Nerve 2009 Sep;40(3):340-9. doi: 10.1002/mus.21385. PMID: 19618441
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
Malicdan MC, Noguchi S, Nishino I
Curr Opin Neurol 2008 Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595. PMID: 18769255

Clinical prediction guides

Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy.
Izumi R, Ikeda K, Niihori T, Suzuki N, Shirota M, Funayama R, Nakayama K, Warita H, Tateyama M, Aoki Y, Aoki M
Ann Clin Transl Neurol 2024 Mar;11(3):577-592. Epub 2023 Dec 29 doi: 10.1002/acn3.51977. PMID: 38158701Free PMC Article
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S
Genes (Basel) 2022 Oct 31;13(11) doi: 10.3390/genes13111991. PMID: 36360228Free PMC Article
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M
Hum Mutat 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. PMID: 24796702Free PMC Article
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
Stober A, Aleo A, Kuhl V, Bornemann A, Walter MC, Lochmüller H, Lindner A, Krause S
Neuromuscul Disord 2010 May;20(5):335-6. Epub 2010 Mar 25 doi: 10.1016/j.nmd.2010.02.013. PMID: 20346669
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, Castagni M, Bresolin N, Comi GP
Muscle Nerve 2003 Jul;28(1):113-7. doi: 10.1002/mus.10391. PMID: 12811782

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