title: DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases.
abstract: Three families, in which several male individuals suffer from a hereditary neuromuscular disease, were examined by analysis of naturally occurring restriction fragment length polymorphisms (RFLPs) and by screening for deletions. Originally, differential diagnosis included spinal muscular atrophy (two families) and limb girdle syndrome (one family) or Becker muscular dystrophy. Since deletions were not detectable, an X-chromosomal segment, carrying DNA markers for the dystrophin gene and its flanking regions was reconstructed; this demonstrated Becker muscular dystrophy is the most probable primary cause of illness in these families. Furthermore, the possible carriership of female members of these families could be determined accurately.
authors.affiliation: Department of Experimental Medicine, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: J C
authors.initials: JC
authors.lastname: Defesche
authors.forename: M
authors.initials: M
authors.lastname: de Vissar
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: G
authors.initials: G
authors.lastname: Bouwsma
authors.forename: J J
authors.initials: JJ
authors.lastname: de Vijlder
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
mesh_terms: D002872:Chromosome Deletion; D003402:Creatine Kinase / Q000235:genetics; D003937:Diagnosis, Differential; D016189:Dystrophin; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis; D009468:Neuromuscular Diseases / Q000175:diagnosis*; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
chemical_list: D016189:Dystrophin; D009124:Muscle Proteins; D003402:Creatine Kinase