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Muscle fiber intranuclear inclusion bodies

MedGen UID:
867766
•Concept ID:
C4022156
•
Finding
Synonym: Muscle fibre intranuclear inclusion bodies
 
HPO: HP:0100304

Definition

The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMuscle fiber intranuclear inclusion bodies

Recent clinical studies

Etiology

Ultrastructure of pheochromocytoma: undescribed morphologic features.
Beiras Fernandez A, Kornberger A, Fraga M, Vahl CF, Beiras A
Virchows Arch 2017 Oct;471(4):537-543. Epub 2017 Apr 20 doi: 10.1007/s00428-017-2129-8. PMID: 28429074
Pleomorphic mitochondrial and different filamentous inclusions in inflammatory myopathies associated with mtDNA deletions.
Molnar M, Schröder JM
Acta Neuropathol 1998 Jul;96(1):41-51. doi: 10.1007/s004010050858. PMID: 9678512

Diagnosis

Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease.
Liu C, Luan X, Liu X, Wang X, Cai X, Li T, Cao L, Long D
Neurol Sci 2022 May;43(5):3231-3237. Epub 2021 Nov 19 doi: 10.1007/s10072-021-05748-4. PMID: 34797461
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy.
Sone J, Hishikawa N, Koike H, Hattori N, Hirayama M, Nagamatsu M, Yamamoto M, Tanaka F, Yoshida M, Hashizume Y, Imamura H, Yamada E, Sobue G
Neurology 2005 Nov 22;65(10):1538-43. doi: 10.1212/01.wnl.0000184490.22527.90. PMID: 16301479
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy.
Tomé FM, Chateau D, Helbling-Leclerc A, Fardeau M
Neuromuscul Disord 1997 Oct;7 Suppl 1:S63-9. doi: 10.1016/s0960-8966(97)00085-0. PMID: 9392019
Congenital myopathy with excess of thin myofilaments.
Goebel HH, Anderson JR, Hübner C, Oexle K, Warlo I
Neuromuscul Disord 1997 May;7(3):160-8. doi: 10.1016/s0960-8966(97)00441-0. PMID: 9185179
Inclusion body myositis presenting with isolated erector spinae paresis.
Hund E, Heckl R, Goebel HH, Meinck HM
Neurology 1995 May;45(5):993-4. doi: 10.1212/wnl.45.5.993. PMID: 7746422

Prognosis

MEN epsilon/beta nuclear-retained non-coding RNAs are up-regulated upon muscle differentiation and are essential components of paraspeckles.
Sunwoo H, Dinger ME, Wilusz JE, Amaral PP, Mattick JS, Spector DL
Genome Res 2009 Mar;19(3):347-59. Epub 2008 Dec 22 doi: 10.1101/gr.087775.108. PMID: 19106332Free PMC Article
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy.
Sone J, Hishikawa N, Koike H, Hattori N, Hirayama M, Nagamatsu M, Yamamoto M, Tanaka F, Yoshida M, Hashizume Y, Imamura H, Yamada E, Sobue G
Neurology 2005 Nov 22;65(10):1538-43. doi: 10.1212/01.wnl.0000184490.22527.90. PMID: 16301479
Congenital myopathy with excess of thin myofilaments.
Goebel HH, Anderson JR, Hübner C, Oexle K, Warlo I
Neuromuscul Disord 1997 May;7(3):160-8. doi: 10.1016/s0960-8966(97)00441-0. PMID: 9185179
Intranuclear rods in severe congenital nemaline myopathy.
Rifai Z, Kazee AM, Kamp C, Griggs RC
Neurology 1993 Nov;43(11):2372-7. doi: 10.1212/wnl.43.11.2372. PMID: 8232959

Clinical prediction guides

Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Roth F, Dhiab J, Boulinguiez A, Mouigni HR, Lassche S, Negroni E, Muraine L, Marhic A, Oliver A, Lainé J, Rouche A, O'Ferrall EK, van Engelen B, Ottenheijm C, Greif H, Blumen S, Lacau St Guily J, Perie S, Butler-Browne G, Mouly V, Trollet C
Acta Neuropathol 2022 Dec;144(6):1157-1170. Epub 2022 Oct 5 doi: 10.1007/s00401-022-02503-7. PMID: 36197469Free PMC Article
Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease.
Liu C, Luan X, Liu X, Wang X, Cai X, Li T, Cao L, Long D
Neurol Sci 2022 May;43(5):3231-3237. Epub 2021 Nov 19 doi: 10.1007/s10072-021-05748-4. PMID: 34797461
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy.
Sone J, Hishikawa N, Koike H, Hattori N, Hirayama M, Nagamatsu M, Yamamoto M, Tanaka F, Yoshida M, Hashizume Y, Imamura H, Yamada E, Sobue G
Neurology 2005 Nov 22;65(10):1538-43. doi: 10.1212/01.wnl.0000184490.22527.90. PMID: 16301479
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis.
Ferrer I, Carmona M, Blanco R, Moreno D, Torrejón-Escribano B, Olivé M
Brain Pathol 2005 Apr;15(2):101-8. doi: 10.1111/j.1750-3639.2005.tb00504.x. PMID: 15912881Free PMC Article
Lacunar dilatations of intrafusal and extrafusal terminal cisternae, annulate lamellae, confronting cisternae and tubulofilamentous inclusions within the spectrum of muscle and nerve fiber changes in myotonic dystrophy.
Dieler R, Schröder JM
Pathol Res Pract 1990 Jun;186(3):371-82. doi: 10.1016/S0344-0338(11)80296-7. PMID: 2143018

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