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Latest muscular dystrophy research news

(last modified October, 2004)

• Limb-Girdle muscular dystrophy 1G
  • Starling A at al. (2004). A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
    Eur J Hum Genet. 2004 Sep 15.
    
• Mutations in LMNA cause many dieseases
  • Navarro CL et al. (2004). Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum.Mol.Genet. 13: 2493-2503.
  • LMNA mutations in Hutchinson-Gilford progeria syndrome (HGPS), LHDPC and Werner's syndrome (WRN)
  • these pages
    • short descriptions
    • LMNA mutation databases
      
• Reviews on DMD gene therapy
  • Van Deutekom JCT and Van Ommen GJB (2003). Advances in Duchenne Muscular Dystrophy gene therapy  Nature Reviews Genetics 4: 774-784.
  • Kapsa R et al. (2003). Novel therapies for Duchenne muscular dystrophy. Lancet Neurol. 2: 299-310.
    
• Adenoviral vectors and DMD gene therapy
  • Gilbert R et al (2003). Prolonged dystrophin expression and functional correction of mdx mouse muscle following gene transfer with a helper-dependent (gutted) adenovirus-encoding murine dystrophin. Hum.Mol.Genet.12: 1287-1299.
    
• Gene expression profiling in neuromuscular disorders
  • Haslett JN et al. (2003). Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics 2003 Apr 16.
  • Campanaro S et al (2002). Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum.Mol.Genet. 11: 3283-3298.
  • Haslett JN et al. (2002). Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc.Natl.Acad.Sci.USA 99: 15000-15005.
  • Bakay M et al. (2002). A web-accessible complete transcriptome of normal human and DMD muscle. Neuromuscul.Disord. 12: S125-141.
  • Porter JD et al. (2002). A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice. Hum.Mol.Genet. 11: 263-272.
    
• Restoration of dystrophin expression in DMD patient cells
  • Aartsma-Rus A et al. (2003). Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum.Mol.Genet.12: 907-914.
  • Van Deutekom JCT et al. (2001). Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum.Mol.Genet. 10: 1547-1554.
    
• Significantly enhanced detection of point mutations in DMD
  • Hofstra RMW, et al (2003). Whole gene DGGE-based mutation scanning of the dystrophin gene in DMD/BMD patients. Human Mutation, in press.
  • Flanigan KM et al. (2003). Rapid direct sequence analysis of the dystrophin gene. Am.J.Hum.Genet. 72: 931-939.
  • Mendell JR et al (2001). Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 57: 645-650.
    
• Titin mutations and disease
  • Garvey SM et al. (2002). The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. Genomics 79: 146-149.
  • Hackman P et al. (2002). Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am.J.Hum.Genet. 71: 492-500.
  • Itoh-Satoh M et al. (2002). Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem.Biophys.Res.Commun. 291: 385-393.
  • Gerull B et al. (2002). Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat.Genet. 30: 201-204.
    
• Second mutation in myotilin (TTID) causing LGMD-1A
  Hauser MA et al. (2002). Myotilin mutation found in second pedigree with LGMD1A. Am.J.Hum.Genet. 71: 1428-1432.
  
• Mutations in TRIM32 cause LGMD-2H 
  Frosk P et al. (2002). Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin-Ligase Gene. Am.J.Hum.Genet. 70: 663-672.
  
• Homozygous LMNA mutations cause CMT type 2 
  De Sandre-Giovannoli A et al. (2002). Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse. Am.J.Hum.Genet. 70: 726-736.
  
• Mutations in  fukutin-related protein gene (FKRP) cause LGMD-2I
  Brockington M et al. (2001). 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. 10: 2851-2859.
  
• Mutations epsilon-sarcoglycan (SGCE) cause myoclonus-dystonia syndrome
  Zimprich A et al. (2001). Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat.Genet. 2001 29: 66-69.
  
• Fukutin-Related Protein Gene (FKRP) mutated in Congenital Muscular Dystrophy
  Brockington M, et al. (2001). Mutations in the Fukutin-Related Protein Gene (FKRP) cause a form of Congenital Muscular Dystrophy with secondary Laminin-alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am.J.Hum.Genet. 69: 1198.
  
• In vitro and in vivo correction of the mdx mutation
  Kapsa R et al. (2001) In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement. Hum.Gene Ther.12: 629-642.
  
• Mutations in CAV3 cause LGMD-1C, hyperCKemia and RMD
  • Betz RC et al. (2001) Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nature Genet. 28: 218-219.
  • Carbone I et al. (2000) Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 54: 1373-1376.
    
• Restoration of dystrophin expression in mdx mice
  Mann CJ et al. (2001). Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc.Natl.Acad.Sci. 98: 42-47.
  
• Table of contents Neuromuscular Disorders: Vol.12: 2002

• Older news

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