caa a22 4500 445807520 CHVBK 20180317145201.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s00415-011-5900-9 doi (NATIONALLICENCE)springer-10.1007/s00415-011-5900-9 A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient [Elektronische Daten] [Odile Dubourg, Thierry Maisonobe, Anthony Behin, Tiina Suominen, Olayinka Raheem, Sini Penttilä, Matt Parton, Bruno Eymard, Arve Dahl, Bjarne Udd] Laing early-onset distal myopathy is a rare autosomal dominant myopathy and caused by mutations in the MYH7 gene, encoding the slow beta myosin heavy chain. We report the first molecularly verified Laing distal myopathy in a French family caused by a novel p.Glu1508del mutation in the MYH7 gene. Interestingly, we identified the identical mutation in an unrelated Norwegian family and, as a de novo mutation, in one sporadic Finnish patient. Described in detail are the clinical and electrophysiological characteristics of 5 patients from the French family. The phenotype in the Finnish patient and the Norwegian patients is largely similar. This mutation causes a benign myopathy within the range of previously reported Laing myopathy phenotype variations. Onset of weakness in the tibialis anterior (TA) muscles occurred in early childhood in all patients. Finger extensor and neck flexor weakness together with Achilles tendon retractions were other frequent findings. The independent recurrence of the identical mutation without any founder background may reflect a mutational susceptibility of this residue, in accordance with some other MYH7 mutations previously reported. De novo mutations seem to be frequent in Laing distal myopathy. This is of clinical importance since a dominant family history is missing, which may confuse differential diagnostic efforts. Springer-Verlag, 2011 Distal myopathy nationallicence MPD1 nationallicence MYH7 gene nationallicence Myosin heavy chain nationallicence Dubourg Odile Centre de Référence des Maladies Neuromusculaires Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France aut Maisonobe Thierry Département de Neurophysiologie Clinique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France aut Behin Anthony Centre de Référence des Maladies Neuromusculaires Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France aut Suominen Tiina Neuromuscular Research Unit, University and University Hospital of Tampere, Tampere, Finland aut Raheem Olayinka Neuromuscular Research Unit, University and University Hospital of Tampere, Tampere, Finland aut Penttilä Sini Neuromuscular Research Unit, University and University Hospital of Tampere, Tampere, Finland aut Parton Matt Center for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, Queen Square, WCIN 3BG, London, UK aut Eymard Bruno Centre de Référence des Maladies Neuromusculaires Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France aut Dahl Arve Neuromuscular Center, Department of Neurology, Rikshospitalet University Hospital, Oslo, Norway aut Udd Bjarne Neuromuscular Research Unit, University and University Hospital of Tampere, Tampere, Finland aut Journal of Neurology Springer-Verlag 258/6(2011-06-01), 1157-1163 0340-5354 258:6<1157 2011 258 415 https://doi.org/10.1007/s00415-011-5900-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-5900-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dubourg Odile Centre de Référence des Maladies Neuromusculaires Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France aut NATIONALLICENCE 700 1- Maisonobe Thierry Département de Neurophysiologie Clinique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France aut NATIONALLICENCE 700 1- Behin Anthony Centre de Référence des Maladies Neuromusculaires Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France aut NATIONALLICENCE 700 1- Suominen Tiina Neuromuscular Research Unit, University and University Hospital of Tampere, Tampere, Finland aut NATIONALLICENCE 700 1- Raheem Olayinka Neuromuscular Research Unit, University and University Hospital of Tampere, Tampere, Finland aut NATIONALLICENCE 700 1- Penttilä Sini Neuromuscular Research Unit, University and University Hospital of Tampere, Tampere, Finland aut NATIONALLICENCE 700 1- Parton Matt Center for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, Queen Square, WCIN 3BG, London, UK aut NATIONALLICENCE 700 1- Eymard Bruno Centre de Référence des Maladies Neuromusculaires Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France aut NATIONALLICENCE 700 1- Dahl Arve Neuromuscular Center, Department of Neurology, Rikshospitalet University Hospital, Oslo, Norway aut NATIONALLICENCE 700 1- Udd Bjarne Neuromuscular Research Unit, University and University Hospital of Tampere, Tampere, Finland aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/6(2011-06-01), 1157-1163 0340-5354 258:6<1157 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer