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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
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1993 1
1995 1
1996 2
1997 8
1998 5
1999 4
2000 12
2001 27
2002 5
2003 10
2004 10
2005 10
2006 4
2007 8
2008 13
2009 6
2010 11
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2012 7
2013 12
2014 14
2015 10
2016 12
2017 12
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2024 3

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277 results

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Page 1
Congenital myopathies: an update.
Claeys KG. Claeys KG. Dev Med Child Neurol. 2020 Mar;62(3):297-302. doi: 10.1111/dmcn.14365. Epub 2019 Oct 2. Dev Med Child Neurol. 2020. PMID: 31578728 Free article. Review.
They are subdivided by the predominant structural pathological change on muscle biopsy, resulting in five subgroups: (1) core myopathies; (2) nemaline myopathies; (3) centronuclear myopathies; (4) congenital fibre type disproportion myopathy; an …
They are subdivided by the predominant structural pathological change on muscle biopsy, resulting in five subgroups: (1) core myop
Collagen VI in the Musculoskeletal System.
Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C. Di Martino A, et al. Int J Mol Sci. 2023 Mar 7;24(6):5095. doi: 10.3390/ijms24065095. Int J Mol Sci. 2023. PMID: 36982167 Free PMC article. Review.
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myopathy (MM), which show …
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital musc …
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ. Butterfield RJ. Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. Continuum (Minneap Minn). 2019. PMID: 31794464 Review.
PURPOSE OF REVIEW: Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. ...This article reviews the clinical and geneti …
PURPOSE OF REVIEW: Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders res …
Recent advances in nemaline myopathy.
Laitila J, Wallgren-Pettersson C. Laitila J, et al. Neuromuscul Disord. 2021 Oct;31(10):955-967. doi: 10.1016/j.nmd.2021.07.012. Epub 2021 Jul 24. Neuromuscul Disord. 2021. PMID: 34561123 Free article. Review.
The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding str
The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all …
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C. Sewry CA, et al. J Muscle Res Cell Motil. 2019 Jun;40(2):111-126. doi: 10.1007/s10974-019-09519-9. Epub 2019 Jun 21. J Muscle Res Cell Motil. 2019. PMID: 31228046 Free PMC article. Review.
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal alpha-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause. …
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inhe …
X-linked myotubular myopathy.
Lawlor MW, Dowling JJ. Lawlor MW, et al. Neuromuscul Disord. 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003. Neuromuscul Disord. 2021. PMID: 34736623 Free article. Review.
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. ...
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubul …
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Ogasawara M, Nishino I. Ogasawara M, et al. Neuromuscul Disord. 2021 Oct;31(10):968-977. doi: 10.1016/j.nmd.2021.08.015. Epub 2021 Sep 17. Neuromuscul Disord. 2021. PMID: 34627702 Review.
Core myopathies are clinically, pathologically, and genetically heterogeneous muscle diseases. ...In this review, we aim to provide up-to-date information about core myopathies....
Core myopathies are clinically, pathologically, and genetically heterogeneous muscle diseases. ...In this review, we aim to provide u …
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
The clinical spectrum of FLNC suggests different pathomechanisms related to variant types and their location in the gene. The appropriate functioning of FLNC is crucial for structural integrity and cell signaling of the sarcomere. The secondary protein structure of FLNC is …
The clinical spectrum of FLNC suggests different pathomechanisms related to variant types and their location in the gene. The appropriate fu …
Congenital myopathies.
Younger DS. Younger DS. Handb Clin Neurol. 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3. Handb Clin Neurol. 2023. PMID: 37562885 Review.
The congenital myopathies are inherited muscle disorders characterized clinically by hypotonia and weakness, usually from birth, with a static or slowly progressive clinical course. Historically, the congenital myopathies have been classified according …
The congenital myopathies are inherited muscle disorders characterized clinically by hypotonia and weakness, usually from birt …
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Robinson R, et al. Hum Mutat. 2006 Oct;27(10):977-89. doi: 10.1002/humu.20356. Hum Mutat. 2006. PMID: 16917943 Review.
Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and three congenital myopathies, including central core disease (CCD), multiminicore disease (MmD), and in an isolated case of a …
Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and t …
277 results