Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues-Reference-Cited by-同舟云学术

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Published:2017-07-06 Issue:6 Volume:134 Page:889-904
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Biancalana Valérie,Scheidecker Sophie,Miguet Marguerite,Laquerrière Annie,Romero Norma B.,Stojkovic Tanya,Abath Neto Osorio,Mercier Sandra,Voermans Nicol,Tanner Laura,Rogers Curtis,Ollagnon-Roman Elisabeth,Roper Helen,Boutte Célia,Ben-Shachar Shay,Lornage Xavière,Vasli Nasim,Schaefer Elise,Laforet Pascal,Pouget Jean,Moerman Alexandre,Pasquier Laurent,Marcorelle Pascale,Magot Armelle,Küsters Benno,Streichenberger Nathalie,Tranchant Christine,Dondaine Nicolas,Schneider Raphael,Gasnier Claire,Calmels Nadège,Kremer Valérie,Nguyen Karine,Perrier Julie,Kamsteeg Erik Jan,Carlier Pierre,Carlier Robert-Yves,Thompson Julie,Boland Anne,Deleuze Jean-François,Fardeau Michel,Zanoteli Edmar,Eymard Bruno,Laporte Jocelyn

Funder

Agence Nationale pour la Recherche

Fondation Maladies Rares

AFM-Téléthon

Agence Nationale de la Recherche

CREGEMES

Fondation pour la Recherche Médicale

Institut National de la Santé et de la Recherche Médicale

Centre National de la Recherche Scientifique

Université de Strasbourg

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/article/10.1007/s00401-017-1748-0/fulltext.html

Reference66 articles.

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4. Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH et al (2013) Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord 23:214–218

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