title: Dysferlinopathy in Iran: Clinical and genetic report.
abstract: BACKGROUND
  Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM). We describe the clinical course and mutational analyses of 15 Iranian patients with dysferlinopathy from 9 different families.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood and 55 exons and flanking intronic boundaries of the dysferlin gene (DYSF; NM_003494.2) were screened for mutations and analyzed.
  
  
  RESULTS
  From 15 studied patients in 9 families, 5 patients were male. Seven families had consanguineous marriage. Median age of onset was 16.8; and the median age of diagnosis was 26.6. The onset was clearly distal in 7 patients, and proximal in 6 patients. Three patients had partial biceps atrophy and 13 showed prominent calf muscle wasting. Foot plantar flexors, deep finger flexors and hip adductors were predominantly involved. Genetic testing showed homozygous mutation of dysferlin gene in 9 probands, 5 of which were not previously reported.
  
  
  CONCLUSIONS
  This work, in fact, may help shed some light on the pattern of this morbidity in Iran, an effort that may have not been attempted so far.
authors.affiliation: Iranian Center of Neurological Research, Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Fatehi
authors.affiliation: Iranian Center of Neurological Research, Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: nafisi@sina.tums.ac.ir.
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
authors.affiliation: Centre GNMH, Hôpital Marin de Hendaye, APHP, 64700 Hendaye, France.
authors.forename: J Andoni
authors.initials: JA
authors.lastname: Urtizberea
authors.affiliation: APHM, Département de Génétique Médicale, Hôpital Timone Enfants, 13385, Marseille, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Blanck-Labelle
authors.affiliation: APHM, Département de Génétique Médicale, Hôpital Timone Enfants, 13385, Marseille, France; Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
authors.affiliation: APHM, Département de Génétique Médicale, Hôpital Timone Enfants, 13385, Marseille, France; Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France.
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
authors.affiliation: Iranian Center of Neurological Research, Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohamad Baker
authors.initials: MB
authors.lastname: Dbouk
authors.affiliation: Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France; Reference Center for Neuromuscular Disorders and ALS CHU La Timone Marseille, France.
authors.forename: Shahram
authors.initials: S
authors.lastname: Attarian
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D005192:Family Health; D005260:Female; D006801:Humans; D007492:Iran; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins
keywords: Dysferlin; Dysferlinopathy; Epidemiology; Iran; Limb girdle muscular dystrophy; Miyoshi disease; Mutation