G.P.82 ‘Double Trouble’: Diagnostic challenges in DMD in patients with an additional hereditary skeletal dysplasia

Abstract Duchenne muscular dystrophy (DMD) is an X-linked disease that is caused by mutations in the dystrophin gene and affects one in 3600–6000 live male births. DMD is characterized by progressive weakness leading to a loss of ambulation, respiratory insufficiency, cardiomyopathy and scoliosis. B...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2012-10, Vol.22 (9), p.836-837
Hauptverfasser:	Donkervoort, S, Tesi-Rocha, C, Schreiber, A, Schindler, A, Leach, M.E, Zurcher, V, Hu, Y, Mankodi, A, Friedman, N.R, Bonnemann, C.G
Format:	Artikel
Sprache:	eng
Schlagworte:	Indexing in process Neurology
Online-Zugang:	Volltext
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