Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion

Neuromuscular Disorders - Tập 26 Số 4-5 - Trang 316-321 - 2016
Maxime Jouaud1, Pierre‐Marie Gonnaud2, Laurence Richard3,4, Philippe Latour5, Elisabeth Ollagnon‐Roman5, Franck Sturtz1,6, Stéphane Mathis7, Laurent Magy3,4, Jean‐Michel Vallat3,4
1Maintenance Myélinique et Neuropathies Périphériques
2Centre Hospitalier Lyon Sud [CHU - HCL]
3Centre de référence national neuropathies périphériques rares [CHU Limoges]
4Service de Neurologie [CHU Limoges]
5Hospices Civils de Lyon
6Service de Biochimie et Génétique Moléculaire [CHU Limoges]
7Service de neurologie [Poitiers]

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Tài liệu tham khảo

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