Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2000 1
2004 2
2005 1
2007 2
2008 1
2009 1
2012 1
2013 1
2017 2
2019 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
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.
Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous group of rare hereditary muscle diseases that are defined by architectural abnormalities in the muscle fibres. They are subdivided by the predominant structural pathological chan …
Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous group of rare hereditary muscle diseases …
Congenital myopathies.
Laing NG. Laing NG. Curr Opin Neurol. 2007 Oct;20(5):583-9. doi: 10.1097/WCO.0b013e3282ef6e69. Curr Opin Neurol. 2007. PMID: 17885449 Review.
PURPOSE OF REVIEW: The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research. RECENT FINDINGS: In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital …
PURPOSE OF REVIEW: The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research. RECE …
Actinopathies and myosinopathies.
Goebel HH, Laing NG. Goebel HH, et al. Brain Pathol. 2009 Jul;19(3):516-22. doi: 10.1111/j.1750-3639.2009.00287.x. Brain Pathol. 2009. PMID: 19563543 Free PMC article. Review.
The currently recognized two forms of "anabolic" protein aggregate myopathies, that is, defects in development, maturation and final formation of respective actin and myosin filaments encompass actinopathies and myosinopathies. ...Early clinical onset is often conge …
The currently recognized two forms of "anabolic" protein aggregate myopathies, that is, defects in development, maturation and final …
Thick filament diseases.
Oldfors A, Lamont PJ. Oldfors A, et al. Adv Exp Med Biol. 2008;642:78-91. doi: 10.1007/978-0-387-84847-1_7. Adv Exp Med Biol. 2008. PMID: 19181095 Review.
Hereditary myosin myopathies are a newly emerged group of diseases caused by mutations in skeletal muscle myosin heavy chain (MyHC) genes. ...However, some mutations are associated with two distinct skeletal myopathies, namely Laing distal my …
Hereditary myosin myopathies are a newly emerged group of diseases caused by mutations in skeletal muscle myosin …
Hereditary myosin myopathies.
Oldfors A. Oldfors A. Neuromuscul Disord. 2007 May;17(5):355-67. doi: 10.1016/j.nmd.2007.02.008. Epub 2007 Apr 16. Neuromuscul Disord. 2007. PMID: 17434305 Review.
Hereditary myosin myopathies have emerged as a new group of muscle diseases with highly variable clinical features and onset during fetal development, childhood or adulthood. ...The majority of more than 200 dominant missense mutations in MYH7 are associated …
Hereditary myosin myopathies have emerged as a new group of muscle diseases with highly variable clinical features and …
Myosinopathies: pathology and mechanisms.
Tajsharghi H, Oldfors A. Tajsharghi H, et al. Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub 2012 Aug 5. Acta Neuropathol. 2013. PMID: 22918376 Free PMC article. Review.
Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage myopathy and Laing distal myopathy are the result of usually dominant mutations in the gene for slow/beta cardiac MyHC (MYH7). Prot …
Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage my …
Research progress of myosin heavy chain genes in human genetic diseases.
He YM, Gu MM. He YM, et al. Yi Chuan. 2017 Oct 20;39(10):877-887. doi: 10.16288/j.yczz.17-090. Yi Chuan. 2017. PMID: 29070483 Review.
At present, distinct mutations in different genes of the MYH family are associated with various human genetic diseases. Mutations in MYH2 are associated with skeletal myopathies, characterized by ophthalmoplegia. ...Mutations in MYH7 are associated with not only ske …
At present, distinct mutations in different genes of the MYH family are associated with various human genetic diseases. Mutations in …
Electron microscopy in neuromuscular disorders.
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF. Fernandez C, et al. Ultrastruct Pathol. 2005 Nov-Dec;29(6):437-50. doi: 10.1080/01913120500323175. Ultrastruct Pathol. 2005. PMID: 16316944 Review.
Accumulation of abnormal inclusion material is found in nemaline myopathy, actinopathies, and hyaline body myopathy. Myofibrillar disorganization involves cores, multiminicores, and myosin chain depletion. ...They can be divided into two groups: myofibrillar …
Accumulation of abnormal inclusion material is found in nemaline myopathy, actinopathies, and hyaline body myopathy. Myofibril …
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E. Gilbert-Barness E. Ann Clin Lab Sci. 2004 Winter;34(1):15-34. Ann Clin Lab Sci. 2004. PMID: 15038665 Review.
Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well as storage diseases. A number of metabolic disorders are associated with both myopathy and cardiomyopathy. These include the glycogen storage diseases, ie, …
Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well as storage diseases. A number of met …
Myopathies associated with myosin heavy chain mutations.
Oldfors A, Tajsharghi H, Darin N, Lindberg C. Oldfors A, et al. Acta Myol. 2004 Sep;23(2):90-6. Acta Myol. 2004. PMID: 15605950 Review.
A heterozygous mutation, Arg1845Trp, in the distal rod region of slow myosin (type I, MYH7) is associated with familial congenital myopathy, with large deposits of MyHC I in the subsarcolemmal region of type 1 muscle fibres, "Myosin storage myopathy …
A heterozygous mutation, Arg1845Trp, in the distal rod region of slow myosin (type I, MYH7) is associated with familial congenital …
12 results