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Year Number of Results
1966 1
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1968 2
1969 4
1970 4
1971 2
1972 3
1973 2
1974 1
1975 6
1976 8
1977 6
1978 8
1979 8
1980 6
1981 6
1982 10
1983 6
1984 8
1985 6
1986 7
1987 11
1988 4
1989 7
1990 9
1991 12
1992 7
1993 9
1994 12
1995 12
1996 17
1997 12
1998 21
1999 11
2000 15
2001 15
2002 21
2003 29
2004 10
2005 19
2006 14
2007 25
2008 25
2009 18
2010 23
2011 33
2012 36
2013 46
2014 35
2015 34
2016 47
2017 40
2018 39
2019 42
2020 42
2021 50
2022 49
2023 50
2024 44
2025 12

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977 results

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Page 1
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.
Historically, the congenital myopathies have been classified according to major morphological features seen on muscle biopsy as nemaline myopathy, central core disease, centronuclear or myotubular myopathy, and congenital fiber type disproportion. However, in the pa …
Historically, the congenital myopathies have been classified according to major morphological features seen on muscle biopsy as nemaline myo …
Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J. Jungbluth H, et al. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Orphanet J Rare Dis. 2008. PMID: 18817572 Free PMC article. Review.
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.The incidence of X-linked myotubular myopathy is estimated at 2/100000 male births but epidem …
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and c …
Centronuclear ("myotubular") myopathy.
Munsat TL, Thompson LR, Coleman RF. Munsat TL, et al. Arch Neurol. 1969 Feb;20(2):120-31. doi: 10.1001/archneur.1969.00480080020002. Arch Neurol. 1969. PMID: 5767012 No abstract available.
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R, Cowling BS, Laporte J. Gómez-Oca R, et al. Int J Mol Sci. 2021 Oct 21;22(21):11377. doi: 10.3390/ijms222111377. Int J Mol Sci. 2021. PMID: 34768808 Free PMC article. Review.
Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle weakness and structural defects including fiber hypotrophy and organelle mispositioning. ...Another two clinical trials to treat myotubular myopathy by MTM1 gene therapy or tamoxife …
Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle weakness and structural defects including fiber …
X-linked myotubular and centronuclear myopathies.
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. Pierson CR, et al. J Neuropathol Exp Neurol. 2005 Jul;64(7):555-64. doi: 10.1097/01.jnen.0000171653.17213.2e. J Neuropathol Exp Neurol. 2005. PMID: 16042307 Review.
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent …
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopat …
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. ...
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. ...
X-Linked Myotubular Myopathy.
Dowling JJ, Lawlor MW, Das S. Dowling JJ, et al. 2002 Feb 25 [updated 2018 Aug 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2002 Feb 25 [updated 2018 Aug 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301605 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. ...
CLINICAL CHARACTERISTICS: X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by m …
A review of major causative genes in congenital myopathies.
Ogasawara M, Nishino I. Ogasawara M, et al. J Hum Genet. 2023 Mar;68(3):215-225. doi: 10.1038/s10038-022-01045-w. Epub 2022 Jun 7. J Hum Genet. 2023. PMID: 35668205 Review.
They are mainly defined and classified according to pathological features, with the major subtypes being core myopathy (central core disease), nemaline myopathy, myotubular/centronuclear myopathy, and congenital fiber-type disproportion myopathy. Recent advances in …
They are mainly defined and classified according to pathological features, with the major subtypes being core myopathy (central core disease …
Myotubular/centronuclear myopathy and central core disease.
Fujimura-Kiyono C, Racz GZ, Nishino I. Fujimura-Kiyono C, et al. Neurol India. 2008 Jul-Sep;56(3):325-32. doi: 10.4103/0028-3886.43451. Neurol India. 2008. PMID: 18974559 Free article. Review.
Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular disease with uniform Type 1 fiber, myopathies that …
Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This review will focus on myotubular my …
977 results