Muscular Dystrophies - Pathology
Research News and Information

Sunday, March 21, 2010

A cytoskeletal tropomyosin can compromise the structural integrity of skeletal muscle.

30 Aug 2009 We have identified a number of extra-sarcomeric actin filaments defined by cytoskeletal tropomyosin (Tm) isoforms. Expression of a cytoskeletal Tm (Tm3) not normally present in skeletal muscle in a transgenic mouse resulted in muscular dystrophy. In ... Read more...

Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue.

30 Aug 2009 We describe a consanguineous family that had progressive myopathy with rimmed vacuole (RV) formation and amyloid deposition. Patient 1 is a 71-year-old woman with muscle atrophy in the lumbar girdle and lower extremities. Patient 2 is a 40-year-old ... Read more...

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

8 Aug 2009 Caveolae are invaginations of the plasma membrane involved in many cellular processes, including clathrin-independent endocytosis, cholesterol transport, and signal transduction. They are characterized by the presence of caveolin proteins. Mutations ... Read more...

Latest indexed articles for 'Muscular Dystrophies - Pathology'

These are the very latest articles for this heading:

• A cytoskeletal tropomyosin can compromise the structural integrity of skeletal muscle. 30 Aug 2009
• Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue. 30 Aug 2009
• Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 8 Aug 2009
• Actin sliding velocity on pure myosin isoforms from dystrophic mouse muscles. 30 Jul 2009
• Gene therapy for muscular dystrophy: current progress and future prospects. 29 Jun 2009
• Measurement of the functional status of patients with different types of muscular dystrophy. 30 May 2009
• Engraftment of mesenchymal stem cells into dystrophin-deficient mice is not accompanied by functional recovery. 17 May 2009
• MHC class I and II expression in juvenile dermatomyositis skeletal muscle. 29 Apr 2009
• Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. 29 Apr 2009
• Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 18 Apr 2009
• Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. 23 Mar 2009
• A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. 23 Mar 2009
• Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 16 Mar 2009
• Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China. 15 Mar 2009
• Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. 11 Mar 2009
• Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 27 Feb 2009
• 'Congenital muscular dystrophy caused by integrin alpha7 deficiency'. 27 Feb 2009
• Nitric oxide generated by muscle corrects defects in hippocampal neurogenesis and neural differentiation caused by muscular dystrophy. 21 Feb 2009
• Muscular dystrophy with reduced beta-sarcoglycan in a cat. 6 Feb 2009
• Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. 30 Jan 2009

See a longer list of these articles.

Technical information about 'Muscular Dystrophies'

Definition: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.

Descriptor UI: D009136

Alternative terms: Muscular Dystrophies; Myodystrophica; Myodystrophicas; Myodystrophy; Myodystrophies; Muscular Dystrophy; Dystrophies, Muscular; Dystrophy, Muscular;

Related Mesh Headings: Mice, Inbred mdx;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; congenital; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; ultrasonography; virology;

Tree Number: C05.651.534.500; C10.668.491.175.500; C16.320.577;

History Note: 2000(1966)

Technical Notes: GEN: prefer specifics; do not confuse with MYOTONIC DYSTROPHY