title: γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.
abstract: We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families who presented with early onset severe muscular dystrophy and a clinical phenotype resembling limb-girdle muscular dystrophy type 2C.
  
  
  
  To define the genetic basis of the diseases in these families, we undertook a series of analyses of the γ-sarcoglycan (SGCG) and DMD genes.
  
  
  
  Fifteen families were shown to carry SGCG variants. Only 2 kinds of causative mutations were identified in the population, mostly in the homozygous state: the well-known c.525delT and the previously described c.87dupT. In the DMD gene, 12 distinctive patterns of deletion were identified, mostly affecting the dystrophin central region.
  
  
  
  Our data suggest that a simple molecular screen consisting of 2 allele-specific polymerase chain reactions (PCRs) and a set of 3 multiplex PCRs can diagnose half of the patients who present with progressive muscular dystrophy in the developing nation of Algeria. Muscle Nerve 56: 129-135, 2017.
authors.affiliation: Laboratory of Molecular and Cellular Biology, Faculty of Natural Sciences and Life, University 1 of Constantine, Algeria.
authors.forename: Imene
authors.initials: I
authors.lastname: Dalichaouche
authors.affiliation: Service of Neurology CHU of Constantine, Algeria.|Laboratory of Biology and Molecular Genetics CHU and University 3 of Constantine, Algeria.
authors.forename: Yamina
authors.initials: Y
authors.lastname: Sifi
authors.affiliation: INSERM, U951, INTEGRARE research unit, Evry, F-91002, France.|Généthon, R&D Department, Evry, F-91002, France.
authors.forename: Carinne
authors.initials: C
authors.lastname: Roudaut
authors.affiliation: Laboratory of Biology and Molecular Genetics CHU and University 3 of Constantine, Algeria.|Laboratory of Biochemistry CHU of Constantine, Algeria.
authors.forename: Karima
authors.initials: K
authors.lastname: Sifi
authors.affiliation: Service of Neurology CHU of Constantine, Algeria.|Laboratory of Biology and Molecular Genetics CHU and University 3 of Constantine, Algeria.
authors.forename: Abdelmadjid
authors.initials: A
authors.lastname: Hamri
authors.affiliation: Laboratory of Molecular and Cellular Biology, Faculty of Natural Sciences and Life, University 1 of Constantine, Algeria.
authors.forename: Leila
authors.initials: L
authors.lastname: Rouabah
authors.affiliation: Laboratory of Biology and Molecular Genetics CHU and University 3 of Constantine, Algeria.|Laboratory of Biochemistry CHU of Constantine, Algeria.
authors.forename: Noureddine
authors.initials: N
authors.lastname: Abadi
authors.affiliation: INSERM, U951, INTEGRARE research unit, Evry, F-91002, France.|Généthon, R&D Department, Evry, F-91002, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Richard
mesh_terms: D000293:Adolescent; D000328:Adult; D000462:Algeria; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D016189:Dystrophin / Q000235:genetics*; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D058088:Sarcoglycanopathies / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*; D018709:Statistics, Nonparametric; D055815:Young Adult
chemical_list: D016189:Dystrophin; D049031:Sarcoglycans
keywords: Algeria; dystrophin; muscular dystrophy; mutation; sarcoglycan