title: [Genetics and epigenetics of facio-scapulohumeral progressive (Landouzy-Dejerine) muscular dystrophy].
abstract: Landouzy-Dejerine muscular dystrophy is a rare hereditary disease with prevalence of 0.9 to 1.4 in 100,000. Clinically the disease is characterized by weakness and atrophy of the facial and shoulder girdle muscles. It is caused by partial deletion of the 3.3-kb subtelomeric D4Z4 repeat on chromosome 4 (locus 4q35). This paper presents a critical review of the literature data and hypotheses explaining molecular mechanisms of progressive fascioscapulohumeral muscular dystrophy.
authors.affiliation: Lomonosov Moscow State University, Moscow, 119899 Russia.
authors.forename: A
authors.initials: A
authors.lastname: Petrov
authors.forename: D
authors.initials: D
authors.lastname: Laoudj
authors.forename: E
authors.initials: E
authors.lastname: Vasetskiĭ
mesh_terms: D002894:Chromosomes, Human, Pair 4; D005111:Extrachromosomal Inheritance; D020868:Gene Silencing; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008957:Models, Genetic; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*; D017384:Sequence Deletion; D020080:Tandem Repeat Sequences; D019098:Telomerase / Q000235:genetics / Q000378:metabolism; D016615:Telomere / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: C121257:DUX4L1 protein, human; D018398:Homeodomain Proteins; D019098:Telomerase