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

Year Number of Results
1987 1
1988 1
1991 1
1992 1
1993 1
1994 1
1995 1
1996 2
1997 8
1998 5
1999 5
2000 13
2001 28
2002 5
2003 10
2004 10
2005 10
2006 4
2007 8
2008 15
2009 6
2010 11
2011 14
2012 7
2013 12
2014 14
2015 10
2016 12
2017 12
2018 11
2019 20
2020 14
2021 12
2022 12
2023 11
2024 6

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290 results

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Page 1
Congenital myopathies: not only a paediatric topic.
Jungbluth H, Voermans NC. Jungbluth H, et al. Curr Opin Neurol. 2016 Oct;29(5):642-50. doi: 10.1097/WCO.0000000000000372. Curr Opin Neurol. 2016. PMID: 27538056 Review.
PURPOSE OF REVIEW: This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and nemaline myopathy - with an emphasis on common genetic backgrounds, typical clinico …
PURPOSE OF REVIEW: This article reviews adult presentations of the major congenital myopathies - central core disease, multimi …
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 (M …
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital musc …
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
Song S, Shi A, Lian H, Hu S, Nie Y. Song S, et al. Heart Fail Rev. 2022 Jul;27(4):1373-1385. doi: 10.1007/s10741-021-10172-z. Epub 2021 Sep 17. Heart Fail Rev. 2022. PMID: 34535832 Review.
FLNC was first demonstrated to be a causal gene of myofibrillar myopathy; recently, it has been found that FLNC mutation plays a critical role in the pathogenesis of cardiomyopathy. ...
FLNC was first demonstrated to be a causal gene of myofibrillar myopathy; recently, it has been found that FLNC mutation plays a crit …
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 …
Myofibrillar myopathies.
Claeys KG, Fardeau M. Claeys KG, et al. Handb Clin Neurol. 2013;113:1337-42. doi: 10.1016/B978-0-444-59565-2.00005-8. Handb Clin Neurol. 2013. PMID: 23622358 Review.
Myofibrillar myopathies (MFMs) are rare, inherited or sporadic, progressive neuromuscular disorders with considerable clinical and genetic heterogeneity. ...
Myofibrillar myopathies (MFMs) are rare, inherited or sporadic, progressive neuromuscular disorders with considerable clinical and ge …
Recently Identified Congenital Myopathies.
Radke J, Stenzel W, Goebel HH. Radke J, et al. Semin Pediatr Neurol. 2019 Apr;29:83-90. doi: 10.1016/j.spen.2019.01.008. Epub 2019 Feb 10. Semin Pediatr Neurol. 2019. PMID: 31060728 Review.
Congenital myopathies (CM) are a large and heterogeneous group of disorders. Many new myopathies with congenital onset have recently been described phenotypically, and their molecular elucidation has rapidly ensued consecutively. ...
Congenital myopathies (CM) are a large and heterogeneous group of disorders. Many new myopathies with congenital
Genetic therapy for congenital myopathies.
Maani N, Karolczak S, Dowling JJ. Maani N, et al. Curr Opin Neurol. 2021 Oct 1;34(5):727-737. doi: 10.1097/WCO.0000000000000978. Curr Opin Neurol. 2021. PMID: 34267051 Review.
At present, there are no approved drug therapies for any subtype of congenital myopathy.In this review, we present an overview of genetic therapies and discuss their application to congenital myopathies. ...SUMMARY: Genetic therapies are ushering in an …
At present, there are no approved drug therapies for any subtype of congenital myopathy.In this review, we present an overview …
Myoimaging in Congenital Myopathies.
Carlier RY, Quijano-Roy S. Carlier RY, et al. Semin Pediatr Neurol. 2019 Apr;29:30-43. doi: 10.1016/j.spen.2019.03.019. Epub 2019 Mar 27. Semin Pediatr Neurol. 2019. PMID: 31060724 Review.
There is a great clinical and genetic heterogeneity in congenital myopathies. Myo-MRI with pattern recognition has become a first-line complementary tool in clinical practice for this group of diseases. ...Myo-MRI in children with congenital myopathies
There is a great clinical and genetic heterogeneity in congenital myopathies. Myo-MRI with pattern recognition has become a fi …
Sporadic Late-Onset Nemaline Myopathy: Current Landscape.
Nicolau S, Milone M. Nicolau S, et al. Curr Neurol Neurosci Rep. 2023 Nov;23(11):777-784. doi: 10.1007/s11910-023-01311-0. Epub 2023 Oct 19. Curr Neurol Neurosci Rep. 2023. PMID: 37856049 Review.
PURPOSE OF REVIEW: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal gammopathy or HIV infection. ...SLONM is a treatable myopathy, although its underlying etiology and pathomechanism …
PURPOSE OF REVIEW: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associat …
The genetics of congenital myopathies.
Gonorazky HD, Bönnemann CG, Dowling JJ. Gonorazky HD, et al. Handb Clin Neurol. 2018;148:549-564. doi: 10.1016/B978-0-444-64076-5.00036-3. Handb Clin Neurol. 2018. PMID: 29478600 Review.
Congenital myopathies are a clinically and genetically heterogeneous group of conditions that most commonly present at or around the time of birth with hypotonia, muscle weakness, and (often) respiratory distress. ...In this review, we highlight the genetic understa
Congenital myopathies are a clinically and genetically heterogeneous group of conditions that most commonly present at or arou
290 results