 | ||||||||||||||||||||||||||||||||||
 |
Research Digest
|
|||||||||||||||||||||||||||||||||
| Mar. 02 |
Blood Test Devised for Dysferlin-Related Disorders
Ho M et al. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol. 2002 Jan;51(1):129-33. [PubMed abstract] |
| Mar. 02 |
Two new genes found for limb-girdle MD
Frosk P et al. Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin-Ligase Gene. Am J Hum Genet. 2002 Mar;70(3):663-72. [PubMed abstract] [MDA Technical Summary] Brockington M et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. [PubMed abstract] [MDA Technical Summary] |
| Nov. 01 |
Heart and breathing muscles involved in some Limb-Girdle MDs
Politano L et al. Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromuscul Disord. 2001 Mar;11(2):178-85. [PubMed abstract] [Quest] |
| July 01 |
Boosting integrin could be treatment for dystrophies Burkin DJ et al. Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice. J Cell Biol. 2001 Mar 19;152(6):1207-18. [PubMed abstract] [Quest] |
| July 01 |
Yet another protein, gene implicated in LGMD Hauser MA et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. [PubMed abstract] [Quest] |
| Nov. 00 |
Newly Discovered Protein Might Compensate for Dysferlin Loss in LGMD 2B and Miyoshi Myopathy Davis DB et al. (2000): Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Human Molecular Genetics, 9(2):217-26. [PubMed abstract] [MDA Technical Summary] |
| Nov. 00 |
Workshop Investigates Symptoms and Gene Defects in LGMD 66th/67th ENMC Sponsored International Workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands. Neuromuscular Disorders 9(6-7):436-445. [MDA Technical Summary] |
| Dec. 99 |
Loss of Any Sarcoglycan But Alpha May Lead to Smooth Muscle Problems in Limb-girdle Straub V, et al. (1999): Epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. Journal of Biological Chemistry, 274(39):27989-27996. (MDA-funded) [PubMed abstract] |
| Dec. 99 |
Dysferlin Found in Cell Membrane But Not Part of Dystrophin-glycoprotein Complex Matsuda C, et al. (1999): Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology, 53:1119-1122. (MDA-funded) [PubMed abstract] |
| Dec. 99 |
Loss of Gamma Sarcoglycan Doesn't Cause Mechanical Injury to Muscle, Researchers Report Hack A, et al. (1999): Muscle degeneration without mechanical injury in sarcoglycan deficiency. Proceedings of the National Academy of Sciences, 96:10723-10728. (MDA-funded) [PubMed abstract] |
| Dec. 99 |
Sarcoglycan Defects in Smooth Muscle May Lead to Heart Problems Coral Vazquez, et al. (1999): Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy. Cell, 98:1-20. [PubMed abstract] [Quest] |
| Dec. 99 |
Natural Mouse Model of LGMD2B Identified Bittner RE, et al. (1999): Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nature Genetics, 23:141-142. No Abstract Available. [Quest] |
| Dec. 99 |
Mice That Lack Beta Sarcoglycan Have Unstable Dystrophin-glycoprotein Complexes Araishi K, et al. (1999): Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. Human Molecular Genetics, 8(9):1589-1598. [PubMed abstract] |
| Sept. 99 |
One Gene, One Mutation, Two Diseases: The Role of Dysferlin in Neuromuscular Disease Weiler, T et al. (1999): Identical mutation in patients with limb-girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Human Molecular Genetics, 8(5):871-877. [PubMed abstract] AND Anderson, LU et al. (1999): Dysferlin is a plasma membrane protein and is expressed early in human development. Human Molecular Genetics, 8(5):855-861. [PubMed abstract] [MDA Technical Summary] |
| Sept. 99 |
Myotilin May be Defective Gene in LGMD1A Salmikangas P, et al. (1999): Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Human Molecular Genetics, 8(7):1329-36. [PubMed abstract] [Quest] |
| Aug. 99 |
A Systemic Approach to Gene Therapy: Delivering the Goods Greelish, JP et al. (1999): Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector. Nature Medicine, 5(4):439-443. (MDA funded) [PubMed abstract] [MDA Technical Summary] |
< < Back to Research Digest Menu
![[MDA - Muscular Dystrophy Association]](/images/foot_res.gif) |
 | What's New | Diseases | Research | Clinics & Services | Community Programs | Publications | En Español | Telethon | Ways to Help | Video | Search | Site Map | Help Now | Home | |