Metabolic disorders

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor

Journal of Medical Genetics Sep 2012, 49 (9) 569-577; DOI: 10.1136/jmedgenet-2012-101146
Complex I deficiency: clinical features, biochemistry and molecular genetics
Elisa Fassone, Shamima Rahman

Journal of Medical Genetics Sep 2012, 49 (9) 578-590; DOI: 10.1136/jmedgenet-2012-101159
Miglustat as a therapeutic agent: prospects and caveats
Rosemarie E Venier, Suleiman A Igdoura

Journal of Medical Genetics Sep 2012, 49 (9) 591-597; DOI: 10.1136/jmedgenet-2012-101070
Translational genomic medicine: common metabolic traits and ancestral components of Mexican Americans
Hui-Qi Qu, Quan Li, Yang Lu, Susan P Fisher-Hoch, Joseph B McCormick

Journal of Medical Genetics Aug 2012, 49 (8) 545-546; DOI: 10.1136/jmedgenet-2012-100966
Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus
Muneera J Alshammari, Lefian Al-Otaibi, Fowzan S Alkuraya

Journal of Medical Genetics Jul 2012, 49 (7) 455-461; DOI: 10.1136/jmedgenet-2011-100666
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene
Merel S Ebberink, Janet Koster, Gepke Visser, Francjan van Spronsen, Irene Stolte-Dijkstra, G Peter A Smit, Johanna M Fock, Stephan Kemp, Ronald J A Wanders, Hans R Waterham

Journal of Medical Genetics May 2012, 49 (5) 307-313; DOI: 10.1136/jmedgenet-2012-100778
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Hanan E Shamseldin, Muneera Alshammari, Tarfa Al-Sheddi, Mustafa A Salih, Hisham Alkhalidi, Amal Kentab, Gabriela M Repetto, Mais Hashem, Fowzan S Alkuraya

Journal of Medical Genetics Apr 2012, 49 (4) 234-241; DOI: 10.1136/jmedgenet-2012-100836
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene
Ola Khalifa, Faiqa Imtiaz, Rabab Allam, Zuhair Al-Hassnan, Amal Al-Hemidan, Khalid Al-Mane, Gheid Abuharb, Ameera Balobaid, Nadia Sakati, James Hyland, Mohammed Al-Owain

Journal of Medical Genetics Apr 2012, 49 (4) 246-248; DOI: 10.1136/jmedgenet-2012-100783
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease
Derralynn A Hughes, Mia Malmenäs, Patrick B Deegan, Perry M Elliott, Lionel Ginsberg, Daniel Hajioff, Alex S Ioannidis, Catherine H Orteu, Uma Ramaswami, Michael West, Gregory M Pastores, Crispin Jenkinson

Journal of Medical Genetics Mar 2012, 49 (3) 212-220; DOI: 10.1136/jmedgenet-2011-100407
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Andoni Echaniz-Laguna, Maïté Chassagne, Jennifer Ceresuela, Isabelle Rouvet, Sylvie Padet, Cécile Acquaviva, Serge Nataf, Stéphane Vinzio, Dominique Bozon, Bénédicte Mousson de Camaret

Journal of Medical Genetics Feb 2012, 49 (2) 146-150; DOI: 10.1136/jmedgenet-2011-100504

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