 Myopathies, Structural, Congenital
"Myopathies, Structural, Congenital" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
| Descriptor ID |
D020914
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| MeSH Number(s) |
C05.651.575 C10.668.491.550
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| Concept/Terms |
Myopathies, Structural, Congenital- Myopathies, Structural, Congenital
- Structural Myopathies, Congenital
- Myotubular Myopathy
- Non-Progressive Myopathies, Congenital
- Non Progressive Myopathies, Congenital
- Myopathy, Myotubular
- Myopathies, Myotubular
- Myotubular Myopathies
- Congenital Structural Myopathies
- Congenital Structural Myopathy
- Myopathies, Congenital Structural
- Myopathy, Congenital Structural
- Structural Myopathy, Congenital
- Congenital Non-Progressive Myopathies
- Congenital Non Progressive Myopathies
- Congenital Non-Progressive Myopathy
- Myopathies, Congenital Non-Progressive
- Myopathy, Congenital Non-Progressive
- Non-Progressive Myopathy, Congenital
Congenital Fiber Type Disproportion- Congenital Fiber Type Disproportion
- Congenital Myopathy with Fiber Type Disproportion
- Myopathy, Congenital, With Fiber-Type Disproportion
- Congenital Fiber-Type Disproportion
- Congenital Fiber-Type Disproportions
- Disproportion, Congenital Fiber-Type
- Disproportions, Congenital Fiber-Type
- Fiber-Type Disproportion, Congenital
- Fiber-Type Disproportions, Congenital
- CFTDM
- Fiber-Type Disproportion Myopathy, Congenital
- Fiber Type Disproportion Myopathy, Congenital
Myotubular Myopathy, X-Linked- Myotubular Myopathy, X-Linked
- Myopathies, X-Linked Myotubular
- Myopathy, X-Linked Myotubular
- Myotubular Myopathies, X-Linked
- Myotubular Myopathy, X Linked
- X-Linked Myotubular Myopathies
- XLMTM
- Myotubular Myopathy 1
- X-Linked Centronuclear Myopathy
- Centronuclear Myopathies, X-Linked
- Centronuclear Myopathy, X-Linked
- Myopathies, X-Linked Centronuclear
- Myopathy, X-Linked Centronuclear
- X Linked Centronuclear Myopathy
- X-Linked Centronuclear Myopathies
- X-Linked Myotubular Myopathy
- X Linked Myotubular Myopathy
Centronuclear Myopathy- Centronuclear Myopathy
- Centronuclear Myopathies
- Myopathies, Centronuclear
- Myopathy, Centronuclear
Tubular Aggregate Myopathy- Tubular Aggregate Myopathy
- Aggregate Myopathies, Tubular
- Aggregate Myopathy, Tubular
- Myopathies, Tubular Aggregate
- Tubular Aggregate Myopathies
- Myopathy, Tubular Aggregate
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Below are MeSH descriptors whose meaning is more general than "Myopathies, Structural, Congenital".
Below are MeSH descriptors whose meaning is more specific than "Myopathies, Structural, Congenital".
This graph shows the total number of publications written about "Myopathies, Structural, Congenital" by people in this website by year, and whether "Myopathies, Structural, Congenital" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2014 | 0 | 1 | 1 | | 2017 | 1 | 1 | 2 | | 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Myopathies, Structural, Congenital" by people in Profiles.
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Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child. 2020 04; 105(4):332-338.
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Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. Muscle Nerve. 2018 04; 57(4):550-560.
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Feingold B, Mahle WT, Auerbach S, Clemens P, Domenighetti AA, Jefferies JL, Judge DP, Lal AK, Markham LW, Parks WJ, Tsuda T, Wang PJ, Yoo SJ. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. Circulation. 2017 Sep 26; 136(13):e200-e231.
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Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, Gonz?lez-Lamu?o D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53.
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Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS Genet. 2013 Jun; 9(6):e1003583.
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Nakagawa O, Arnold M, Nakagawa M, Hamada H, Shelton JM, Kusano H, Harris TM, Childs G, Campbell KP, Richardson JA, Nishino I, Olson EN. Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2. Genes Dev. 2005 Sep 01; 19(17):2066-77.
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