Article
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta neuropathologica - 1 Dec 2017
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
Abstract excerpt
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported. To assess the phenotypic and pathological spectra of carrier females and to delineate...
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