Molecular Genetics in Diseases of Brain, Nerve and Muscle

BACKGROUND: D. Wood: Molecular genetics: historical introduction; L. Rowland: The transformation of clinical concepts and clinical practice by molecular genetics; W. Johnson: Mendelian and non-Mendelian inheritance; THE BASICS OF MOLECULAR GENETICS: E. Schon: Prokaryotic and eukaryotic genomes; E. Schon: Transcription and regulatory elements; F. Alt: Genetically programmed and adaptive genome plasticity in mammalian cells; J. Lupski & C.T. Caskey: Mutations and human disease; P. Ray: Restriction enzymes, blots, and RFLPs; J. Sylvester: Making libraries; A. Monaco: DNA probes, library screening, DNA sequencing, and expression vectors; G. Bruns: Assigning gene loci: family structures, somatic cell hybridization, chromosome sorting, in situ hybridization, translocation; C. Smith & C. Cantor: Assigning gene loci: construction of physical maps; application in finding genes; P.M. Conneally: Assigning gene loci: linkage, crossing over, LOD scores; J.F. Hegtmaneik et al: Genetic analysis; DISEASES OF KNOWN GENE PRODUCT: R.A. Gibbs et al: Nesch-Nyhan syndrome; S. Woo: Phenylketonuria; S. Vora: Muscle phosphofructokinase and phosphorylase deficiency syndromes; R. Hirschorn et al: Acid-alpha glucosidase deficiency; R. Gravel & D. Mahuran: B-hexosaminidase deficiency; W. Fenton: Ornithine transcarbamylase; S. DiMauro & E. Schon: Mitochondrial diseases; J. Herbert: Familial amyloidotic polyneuropathies; DISEASES OF UNKNOWN GENE PRODUCT: J. Gusella: DNA markers in dominant neurogenetic diseases; A. Roses et al: Myotonic muscular dystrophy; P. Chance & T. Bird: Hereditary motor and sensory neuropathies; R. Rosenberg & A. Grossman: Hereditary ataxias; L. Kunkel: Duchenne muscular dystrophy; W. Seltzer & E. McCabe: Glycerol kinase deficiency; K. Davies: X-linked mental retardation syndromes; K. Fischbeck: Other x-linked neuromuscular diseases; SOCIAL ASPECTS OF MOLECULAR GENETICS: G. MacGregor et al: Gene replacement therapy; R.R. Howell: The ethics of gene therapy and DNA diagnosis; N. Wexler: The oracle of DNAs.