A patient with hereditary neuropathy presented with asymmetric distal weakness. On nerve biopsy, there was demyelination and onion-bulb formation, and molecular analysis revealed that the patient was heterozygous for an MPZ mutation. The patient improved with corticosteroid treatment.
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CHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
CHU La Timone, AP HM, ALS, Marseille, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Subreville, Marie
Bonello-Palot, Nathalie
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Aix Marseille Univ, INSERM, UMR 1251, Marseille Med Genet, Marseille, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Bonello-Palot, Nathalie
Yahiaoui, Douniazed
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CHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
CHU La Timone, AP HM, ALS, Marseille, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Yahiaoui, Douniazed
Beloribi-Djefaflia, Sadia
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CHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
CHU La Timone, AP HM, ALS, Marseille, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Beloribi-Djefaflia, Sadia
Fernandes, Sara
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机构:
Aix Marseille Univ, CEReSS Hlth Serv, Res & Qual Life Ctr, Marseille, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Fernandes, Sara
Stojkovic, Tanya
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Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Dis North East Ile Fr, Paris, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Stojkovic, Tanya
Cassereau, Julien
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Angers Univ Hosp, Reference Ctr Neuromuscular Disorders AOC, Angers, France
Angers Univ Hosp, Natl Reference Ctr Neurogenet Dis, Angers, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Cassereau, Julien
Pereon, Yann
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机构:
CHU Nantes, Reference Ctr NMD, Dept Clin Neurophysiol, Nantes, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Pereon, Yann
Echaniz-Laguna, Andoni
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机构:
CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, France
French Natl Reference Ctr Rare Neuropathies, Le Kremlin Bicetre, France
INSERM, U1195, Le Kremlin Bicetre, France
Paris Sud Univ, Le Kremlin Bicetre, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Echaniz-Laguna, Andoni
Violleau, Marie-Helene
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CHU Bordeaux, AOC, Reference Ctr Neuromuscular Disorders, Bordeaux, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Violleau, Marie-Helene
Soulages, Antoine
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CHU Bordeaux, AOC, Reference Ctr Neuromuscular Disorders, Bordeaux, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Soulages, Antoine
Louis, Sarah Leonard
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Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Dis North East Ile Fr, Paris, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Louis, Sarah Leonard
Masingue, Marion
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Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Dis North East Ile Fr, Paris, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Masingue, Marion
Magot, Armelle
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CHU Nantes, Reference Ctr NMD, Dept Clin Neurophysiol, Nantes, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Magot, Armelle
Delmont, Emilien
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机构:
CHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
CHU La Timone, AP HM, ALS, Marseille, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Delmont, Emilien
Sacconi, Sabrina
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机构:
Univ Cote Azur, Peripheral Nervous Syst Serv Muscle & SLA, CHU Nice, Nice, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Sacconi, Sabrina
Adams, David
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机构:
CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Adams, David
Labeyrie, Celine
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机构:
CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Labeyrie, Celine
Genestet, Steeve
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机构:
CHRU Cavale Blanche, Neurol Dept, Brest, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Genestet, Steeve
Noury, Jean-Baptiste
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机构:
CHRU Cavale Blanche, Neurol Dept, Brest, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Noury, Jean-Baptiste
Chanson, Jean-Baptiste
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机构:
CHU Strasbourg, Hop Hautepierre, Dept Neurol, Strasbourg, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Chanson, Jean-Baptiste
Levy, Nicolas
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机构:
Aix Marseille Univ, INSERM, UMR 1251, Marseille Med Genet, Marseille, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Levy, Nicolas
Juntas-Morales, Raul
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机构:
CHU Montpellier, Dept Neurol, Reference Ctr Neuromuscular Disorders AOC, Montpellier, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Juntas-Morales, Raul
Tard, Celine
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机构:
Lille Univ, CHU Lille, Reference Ctr Neuromuscular Dis North East Ile Fr, Inserm,U1171,Dept Neurol, Lille, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Tard, Celine
Sole, Guilhem
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机构:
CHU Bordeaux, AOC, Reference Ctr Neuromuscular Disorders, Bordeaux, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
Sole, Guilhem
Attarian, Shahram
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机构:
CHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France
CHU La Timone, AP HM, ALS, Marseille, France
Aix Marseille Univ, INSERM, UMR 1251, Marseille Med Genet, Marseille, France
CHRU Cavale Blanche, Neurol Dept, Brest, FranceCHU La Timone, AP HM, Reference Ctr Neuromuscular Disorders, Marseille, France