Table of contents

Research Article

• A linkage study of a large pedigree with X linked centronuclear myopathy. (1 May, 1990)

  J Starr, M Lamont, L Iselius, J Harvey, J Heckmatt
• X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. (1 May, 1990)

  N S Thomas, H Williams, G Cole, K Roberts, A Clarke, S Liechti-Gallati, S Braga, A Gerber, C Meier, H Moser
• X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. (1 May, 1990)

  A E Lehesjoki, E M Sankila, J Miao, M Somer, R Salonen, J Rapola, A de la Chapelle
• Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. (1 May, 1990)

  A Cooke, W G Lanyon, D E Wilcox, E S Dornan, A Kataki, E F Gillard, A J McWhinnie, A Morris, M A Ferguson-Smith, J M Connor
• An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics. (1 May, 1990)

  M J Kotze, L Warnich, E Langenhoven, L du Plessis, A E Retief
• A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations. (1 May, 1990)

  L Hasholt, S A Sørensen, A Wandall, E B Andersen, P Arlien-Søborg
• Segregation analysis of peripheral neurofibromatosis (NF1). (1 May, 1990)

  M Littler, N E Morton
• Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. (1 May, 1990)

  E R Maher, J R Yates, M A Ferguson-Smith
• Restrictive dermopathy: a report of three cases. (1 May, 1990)

  Q Mok, R Curley, J L Tolmie, R A Marsden, M A Patton, E G Davies
• Popliteal pterygium syndrome. (1 May, 1990)

  U G Froster-Iskenius
• Partial monosomy 8p with minimal dysmorphic signs. (1 May, 1990)

  E Blennow, K Bröndum-Nielsen
• Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts. (1 May, 1990)

  J C Lambert, M C Saint-Paul, F Bastiani, V Paquis, A M Saunieres
• The Coffin-Siris syndrome. (1 May, 1990)

  Q H Qazi, L S Heckman, D Markouizos, R S Verma
• Median clefting of the upper lip associated with cutaneous polyps. (1 May, 1990)

  W Reardon, B Jones, M Baraitser
• Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. (1 May, 1990)

  M E Porteous, J Burn