Genomes and Genes
- Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)Valérie Allamand
INSERM U523, Institut de Myologie Bâtiment Joseph Babinski, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
Eur J Hum Genet 10:91-4. 2002..A number of mutations in the gene encoding this protein have been identified in patients who present with a severe phenotype and white matter changes...
- A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathyValérie Allamand
Institut National de la Sante et de la Recherche Medicale, U582, Institut de Myologie, IFR 14, Groupe Hospitalier Pitie Salpetriere, Paris, France
EMBO Rep 7:450-4. 2006..The identification of this mutation affecting a conserved base in the SECIS functional motif thereby reveals the structural basis for a novel pathological mechanism leading to SEPN1-related myopathy...
- Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain geneSylvie Besse
INSERM U523, Institut de Myologie, IFR Coeur Muscle et Vaisseaux no 14, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651, Paris Cedex 13, France
Neuromuscul Disord 13:216-22. 2003..The dy(Pas)/dy(Pas) mouse is thus the first spontaneous mutant with a complete laminin alpha2 chain deficiency in which the mutation has been identified...
- Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Brinas
INSERM, U582, Paris, France
Ann Neurol 68:511-20. 2010..We extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype-phenotype correlations...
- Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursorsPerrine Castets
INSERM, U582, F 75013 Paris, France
BMC Dev Biol 9:46. 2009..Using qRT-PCR, Western blot and whole mount in situ hybridization, we characterized in detail the spatio-temporal expression pattern of the murine Sepn1 gene during development, focusing particularly on skeletal muscles...
- Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubesValérie Allamand
INSERM, U582, Paris, France
J Gene Med 10:217-24. 2008..A promising approach for the treatment of genetic disorders due to premature termination codons (PTCs) is the use of drugs to force stop codon readthrough...
- Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutationAnamaria Bolocan
Institut de Myologie, UPMC Université, groupe hospitalier universitaire La Pitié Salpêtrière, Paris, France
Neuromuscul Disord 24:993-8. 2014..Glu63Lys). The present report thus extends the differential diagnosis of congenital muscular dystrophy with major "retractile" phenotypes and adds congenital muscular dystrophy to the clinical spectrum of HRAS-related disorders. ..
- Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyErcan Demir
INSERM U 523, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
Am J Hum Genet 70:1446-58. 2002..Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency...
- ColVI myopathies: where do we stand, where do we go?Valérie Allamand
INSERM, U974, Paris, France
Skelet Muscle 1:30. 2011..In particular, mitochondrial dysfunction and a defect in the autophagic clearance system of skeletal muscle have recently been reported, thereby opening potential therapeutic avenues...
- Sense from nonsense: therapies for premature stop codon diseasesLaure Bidou
Universite Paris Sud, Orsay, France
Trends Mol Med 18:679-88. 2012..Here, we review the molecular basis for PTC readthrough in eukaryotes and describe currently available compounds with significant therapeutic potential for treating genetic disorders and cancer...