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
2005 2
2007 1
2008 3
2011 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Page 1
Myofibrillar myopathies.
Selcen D. Selcen D. Neuromuscul Disord. 2011 Mar;21(3):161-71. doi: 10.1016/j.nmd.2010.12.007. Epub 2011 Jan 20. Neuromuscul Disord. 2011. PMID: 21256014 Free PMC article. Review.
The clinical features of myofibrillar myopathies are more variable. These include progressive muscle weakness, that often involves or begins in distal muscles but limb-girdle or scapuloperoneal distributions can also occur. ...The generic diagnosis of myofibrillar m …
The clinical features of myofibrillar myopathies are more variable. These include progressive muscle weakness, that often involves or …
Myofibrillar myopathies.
Selcen D. Selcen D. Curr Opin Neurol. 2008 Oct;21(5):585-9. doi: 10.1097/WCO.0b013e32830a752b. Curr Opin Neurol. 2008. PMID: 18769253 Free PMC article. Review.
RECENT FINDINGS: The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternatively spliced PDZ-containing protein and filamin C, as well as in desmin, alphaB-crystallin and myotilin, result in similar pathologic …
RECENT FINDINGS: The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternativ …
The Z-disk diseases.
Selcen D, Carpén O. Selcen D, et al. Adv Exp Med Biol. 2008;642:116-30. doi: 10.1007/978-0-387-84847-1_10. Adv Exp Med Biol. 2008. PMID: 19181098 Review.
Recent studies have identified disease-causing mutations in four genes that encode Z-disk proteins. Mutations in myotilin (MYOT), ZASP and filamin C (FLNC) encoding genes cause autosomal dominant myopathy that manifests in adulthood. ...The disease typically manifests as d …
Recent studies have identified disease-causing mutations in four genes that encode Z-disk proteins. Mutations in myotilin (MYOT), ZAS …
Molecular pathology of myofibrillar myopathies.
Ferrer I, Olivé M. Ferrer I, et al. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Expert Rev Mol Med. 2008. PMID: 18764962 Review.
Myofibrillar myopathies (MFMs) are clinically and genetically heterogeneous muscle disorders that are defined morphologically by the presence of foci of myofibril dissolution, accumulation of myofibrillar degradation products, and ectopic expression of multiple prot …
Myofibrillar myopathies (MFMs) are clinically and genetically heterogeneous muscle disorders that are defined morphologically by the …
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.
Electron microscopy has a strategic position in the diagnosis of neuromuscular disorders. In muscular fibers, the main abnormalities include vacuoles, inclusion bodies, and myofibrillar disorganization with or without abnormal inclusion material. ...At least three genes ar …
Electron microscopy has a strategic position in the diagnosis of neuromuscular disorders. In muscular fibers, the main abnormalities …
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M. Kley RA, et al. Brain. 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. Brain. 2007. PMID: 18055494 Review.
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres. We studied 31 patients from four German fa …
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction …
Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities.
Guglieri M, Magri F, Comi GP. Guglieri M, et al. Clin Chim Acta. 2005 Nov;361(1-2):54-79. doi: 10.1016/j.cccn.2005.05.020. Clin Chim Acta. 2005. PMID: 16002060 Review.
Molecular genetic studies have demonstrated different causative mutations in the genes encoding a disparate collection of proteins involved in all aspects of muscle cell biology. These novel skeletal muscle genes encode highly diverse proteins with different localiz …
Molecular genetic studies have demonstrated different causative mutations in the genes encoding a disparate collection of proteins involved …