41st ENMC international workshop on congenital muscular dystrophy 8–10 March 1996, Naarden, The Netherlands
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Muscular Dystrophies and Allied Disorders III: Congenital Muscular Dystrophies and Associated Disorders
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2012, NeurologyHereditary muscular dystrophies and the heart
2010, Neuromuscular DisordersCitation Excerpt :Occasional reports suggest that cardiac involvement may be present in MDC1A. Reduced left ventricular systolic function in a few patients has been addressed [138]. Echocardiography in six MDC1A patients showed reduced ejection fraction in three subjects [139].
Neonatal Hypotonia
2008, Neonatology: Questions and Controversies Series: NeurologyLissencephaly type II
2007, Handbook of Clinical NeurologyCitation Excerpt :The very first descriptions of now so‐called ‘merosin‐deficient MDC’ goes back to the early 1980s. In the past 10 years, a significant input to the field has come from the activities of the European Neuromuscular Centre (ENMC) Congenital Muscular Dystrophy Consortium, which convened nine dedicated workshops (Dubowitz, 1994, 1996, 1997, 1999; Dubowitz and Fardeau, 1995; Muntoni and Guicheney, 2002; Muntoni et al., 2002, 2003; Muntoni and Voit, 2005). We shall review the related disorders in chronological order of the resolving of the biochemistry, cellular aspects and molecular pathology, simply because consecutive discoveries of the responsible mechanisms one after the other have given us a better understanding of the field in general.