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Intranuclear rod myopathy

MedGen UID:
777985
•Concept ID:
C3711377
•
Disease or Syndrome
Synonyms: Intranuclear Nemaline Rod Myopathy; Intranuclear Rod Myopathy; Nemaline Myopathy with Exclusively Intranuclear Rods

Professional guidelines

PubMed

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ, Marston S
Neuromuscul Disord 2009 Jan;19(1):6-16. Epub 2008 Oct 30 doi: 10.1016/j.nmd.2008.09.005. PMID: 18976909

Recent clinical studies

Etiology

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Congenital myopathies: diseases of the actin cytoskeleton.
Clarkson E, Costa CF, Machesky LM
J Pathol 2004 Nov;204(4):407-17. doi: 10.1002/path.1648. PMID: 15495263

Diagnosis

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ
Hum Mutat 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059. PMID: 19562689Free PMC Article
Congenital myopathies: diseases of the actin cytoskeleton.
Clarkson E, Costa CF, Machesky LM
J Pathol 2004 Nov;204(4):407-17. doi: 10.1002/path.1648. PMID: 15495263
Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy.
Weeks DA, Nixon RR, Kaimaktchiev V, Mierau GW
Ultrastruct Pathol 2003 May-Jun;27(3):151-4. doi: 10.1080/01913120309933. PMID: 12775505

Therapy

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG
Neuromuscul Disord 2003 Sep;13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9. PMID: 12921789

Prognosis

Congenital myopathies: diseases of the actin cytoskeleton.
Clarkson E, Costa CF, Machesky LM
J Pathol 2004 Nov;204(4):407-17. doi: 10.1002/path.1648. PMID: 15495263
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy.
Goebel HH, Warlo I
Neuromuscul Disord 1997 Jan;7(1):13-9. doi: 10.1016/s0960-8966(96)00404-x. PMID: 9132135
Infantile intranuclear rod myopathy.
Goebel HH, Piirsoo A, Warlo I, Schofer O, Kehr S, Gaude M
J Child Neurol 1997 Jan;12(1):22-30. doi: 10.1177/088307389701200104. PMID: 9010792

Clinical prediction guides

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
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
Am J Hum Genet 2017 Jan 5;100(1):169-178. Epub 2016 Dec 22 doi: 10.1016/j.ajhg.2016.11.017. PMID: 28017374Free PMC Article
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event.
Kawase K, Nishino I, Sugimoto M, Kouwaki M, Koyama N, Yokochi K
Brain Dev 2015 Feb;37(2):265-9. Epub 2014 Apr 29 doi: 10.1016/j.braindev.2014.04.002. PMID: 24787270
Congenital myopathies: diseases of the actin cytoskeleton.
Clarkson E, Costa CF, Machesky LM
J Pathol 2004 Nov;204(4):407-17. doi: 10.1002/path.1648. PMID: 15495263
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST
Hum Mol Genet 2004 Aug 15;13(16):1727-43. Epub 2004 Jun 15 doi: 10.1093/hmg/ddh185. PMID: 15198992

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