Table of contents

Genotype-phenotype correlations

• Original article:

  Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

  (7 January, 2014) Free

  Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Jane B Lane, Kathleen J Motil, Steven A Skinner, Daniel Charles Tarquinio, Daniel G Glaze, Gerald McGwin, Walter E Kaufmann, Alan K Percy, Jeffrey L Neul, Michelle L Olsen
• Short report:

  Correlation between FMR1 expression and clinical phenotype in discordant dichorionic–diamniotic monozygotic twin sisters with the fragile x mutation

  (27 November, 2013)

  Wen Huang, Shiyu Luo, Jianjun Ou, Furong Zhu, Yan Xia, Jinjie Xue, Qian Pan, Lingqian Wu, Ranhui Duan
• Short report:

  The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

  (27 November, 2013)

  Alexander J Hamilton, Coralie Bingham, Timothy J McDonald, Paul R Cook, Richard C Caswell, Michael N Weedon, Richard A Oram, Beverley M Shields, Maggie Shepherd, Carol D Inward, Julian P Hamilton-Shield, Jürgen Kohlhase, Sian Ellard, Andrew T Hattersley
• Original article:

  Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

  (23 December, 2013)

  Christopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, Holger Prokisch, Birgit Haberberger, Matthias Gautschi, Annemarie Häberli, Sabina Gallati, André Schaller
• Original article: The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy (23 December, 2013)

  Zhong Liu, Yanrui Song, Dan Li, Xiangyu He, Shishi Li, Bifeng Wu, Wei Wang, Shulian Gu, Xiaoyu Zhu, Xuexiang Wang, Qiyin Zhou, Yu Dai, Qingfeng Yan