Emery-Dreifuss Muscular Dystrophy 2
Emery-Dreifuss 2

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Prevalence (%) of clinical parameters based on data from 1 references describing 53 individuals

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Myopathy skeletal 100 % 10939567 2014-01-28
Increased blood CK skeletal 91 % 10939567 2014-01-28
Muscle weakness skeletal 77 % 10939567 2014-01-28
Contracture skeletal 77 % 10939567 2014-01-28
Muscle atrophy skeletal 77 % 10939567 2014-01-28
Cardiac arrhythmia circulatory 43 % 10939567 2014-01-28
Pacemakers implanted circulatory 11 % 10939567 2014-01-28
Scoliosis skeletal 9 % 10939567 2014-01-28

List of references:

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
G Bonne, E Mercuri, A Muchir, A Urtizberea, H M B├ęcane, D Recan, L Merlini, M Wehnert, R Boor, U Reuner, M Vorgerd, E M Wicklein, B Eymard, D Duboc, I Penisson-Besnier, J M Cuisset, X Ferrer, I Desguerre, D Lacombe, K Bushby, C Pollitt, D Toniolo, M Fardeau, K Schwartz, F Muntoni,

Annals of neurology - Aug 2000