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Tytuł pozycji:

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

Tytuł :
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Autorzy :
Lornage X; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
Malfatti E; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
Chéraud C; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
Schneider R; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.; Department of Computer Science, ICube, National Center for Scientific Research, Strasbourg, France.
Biancalana V; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.; Diagnostic Genetic Laboratory, New Civil Hospital, Regional University Hospital Center, Strasbourg, France.
Cuisset JM; Department of Neuropediatrics, Reference Center for Neuromuscular Diseases, Roger-Salengro Hospital, Regional University Hospital Center, Lille, France.
Garibaldi M; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Diseases, Department of Neurology, Mental Health, and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.; Neuromuscular Diseases Centre, Department of Clinical Neurosciences, University Hospital of Nice, Nice, France.
Eymard B; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
Fardeau M; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
Boland A; National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies, Evry, France.
Deleuze JF; National Genotyping Center, Genomics Institute, Office of Atomic Energy and Alternative Energies, Evry, France.
Thompson J; Department of Computer Science, ICube, National Center for Scientific Research, Strasbourg, France.
Carlier RY; Department of Radiology, Neurolocomotor Division, Raymond Poincaré Hospital, University Hospitals Paris-Ile-de-France West, Public Hospital Network of Paris, Garches, France.; Versailles Saint-Quentin-en-Yvelines University, Versailles, France.
Böhm J; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
Romero NB; Sorbonne Universities, Pierre and Marie Curie University, National Institute of Health and Medical Research, National Center for Scientific Research, Center for Research in Myology, Pitié-Salpêtrière Hospital, Paris, France.; Unit of Neuromuscular Morphology, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
Laporte J; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.; National Institute of Health and Medical Research, Illkirch, France.; National Center for Scientific Research, Illkirch, France.; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch, France.
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Źródło :
Annals of neurology [Ann Neurol] 2017 Mar; Vol. 81 (3), pp. 467-473. Date of Electronic Publication: 2017 Mar 20.
Typ publikacji :
Journal Article
Język :
English
Imprint Name(s) :
Publication: New York, NY : Wiley-Liss
Original Publication: Boston, Little, Brown.
MeSH Terms :
Muscle Proteins/*genetics
Myopathies, Structural, Congenital/*genetics
Adult ; Consanguinity ; Exome ; Female ; Humans ; Male ; Mutation ; Myopathies, Structural, Congenital/pathology ; Myopathies, Structural, Congenital/physiopathology ; Pedigree
Substance Nomenclature :
0 (MYPN protein, human)
0 (Muscle Proteins)
SCR Disease Name :
Cap Myopathy
Entry Date(s) :
Date Created: 20170222 Date Completed: 20170630 Latest Revision: 20170630
Update Code :
20210210
DOI :
10.1002/ana.24900
PMID :
28220527
Czasopismo naukowe
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies. Our data uncover that mutations in MYPN cause either a cardiac or a congenital skeletal muscle disorder through different modes of inheritance. Ann Neurol 2017;81:467-473.
(© 2017 American Neurological Association.)

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