Mitochondrial Diseases

  1. Research

    Quantification of gait in mitochondrial m.3243A > G patients: a validation study

    More than half of the patients harbouring the m.3243A > G mutation were found to have trouble maintaining balance when walking in a recent study by our group. Others demonstrated that these patients had an abn...

    Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian CH Janssen and Jan Smeitink

    Orphanet Journal of Rare Diseases 2017 12:91

    Published on: 15 May 2017

  2. Research

    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

    Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been des...

    Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi…

    Orphanet Journal of Rare Diseases 2017 12:89

    Published on: 12 May 2017

  3. Research

    Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

    Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a ...

    Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg…

    Orphanet Journal of Rare Diseases 2017 12:73

    Published on: 20 April 2017

  4. Research

    A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

    The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders.

    Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali and Lihadh Al-Gazali

    Orphanet Journal of Rare Diseases 2016 11:139

    Published on: 21 October 2016

  5. Research

    Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy

    Mitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches ...

    Saskia Maria Gehrig, Violeta Mihaylova, Sebastian Frese, Sandro Manuel Mueller, Maria Ligon-Auer, Christina M. Spengler, Jens A. Petersen, Carsten Lundby and Hans H. Jung

    Orphanet Journal of Rare Diseases 2016 11:105

    Published on: 29 July 2016

  6. Research

    Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

    Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed l...

    Christianne Verhaak, Paul de Laat, Saskia Koene, Marijke Tibosch, Richard Rodenburg, Imelda de Groot, Hans Knoop, Mirian Janssen and Jan Smeitink

    Orphanet Journal of Rare Diseases 2016 11:25

    Published on: 18 March 2016