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Congenital myopathy with cores

MedGen UID:
1842700
•Concept ID:
C5680516
•
Disease or Syndrome
Orphanet: ORPHA172976

Professional guidelines

PubMed

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, Pellissier JF
Arch Neurol 2004 Jan;61(1):106-13. doi: 10.1001/archneur.61.1.106. PMID: 14732627

Recent clinical studies

Etiology

Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB
Acta Neuropathol Commun 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. PMID: 30611313Free PMC Article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Congenital myopathies.
Romero NB, Clarke NF
Handb Clin Neurol 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. PMID: 23622357
Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article

Diagnosis

Congenital myopathies.
Younger DS
Handb Clin Neurol 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3. PMID: 37562885
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Congenital myopathies.
Romero NB, Clarke NF
Handb Clin Neurol 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. PMID: 23622357
Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P
Hum Mutat 2006 Oct;27(10):977-89. doi: 10.1002/humu.20356. PMID: 16917943

Therapy

Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis.
Seitz RJ, Toyka KV, Wechsler W
J Neurol 1984;231(3):103-8. doi: 10.1007/BF00313674. PMID: 6481414

Prognosis

Congenital myopathies.
Younger DS
Handb Clin Neurol 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3. PMID: 37562885
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article
Central core disease.
Jungbluth H
Orphanet J Rare Dis 2007 May 15;2:25. doi: 10.1186/1750-1172-2-25. PMID: 17504518Free PMC Article

Clinical prediction guides

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB
Acta Neuropathol Commun 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. PMID: 30611313Free PMC Article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies.
Guglielmi V, Marini M, Masson ÉF, Malatesta M, Forget D, Tomelleri G, Coulombe B, Vattemi G
Histopathology 2015 Dec;67(6):859-65. Epub 2015 May 25 doi: 10.1111/his.12715. PMID: 25891782
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.
Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG
Neuromuscul Disord 2015 Jan;25(1):43-54. Epub 2014 Sep 28 doi: 10.1016/j.nmd.2014.09.010. PMID: 25307854Free PMC Article

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