Observational (n=59)
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The study describes the clinical phenotype and disease severity distribution in patients with autosomal dominant FSLD2.
59 patients from 21 autosomal dominant FSLD2 families were examined. Among 59 patients, 33 (55, 9%) (12 men and 21 women; 24-86 years old) were symptomatic and 26 (44.06%) (9 men and 17 women; 6-30 years old) were presymptomatic (Pr). Among 33 symptomatic patients 25 (75.5%) had a Severe Degree of the Disease (SDD), 7 (21.2%) -a moderate (MoDD) and 3 (9%) -a mild (MDD) degree of the disease. We can observe the dynamic pattern of the muscle affection (the myogenic phenotype) and the disease severity in 24 FSLD2 patients who were re-examined
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Kazakov et al. (2018) conducted an observational in Autosomal Dominant FacioScapulo-Limb Type 2 (FSLD2) (n=59). Autosomal dominant FSLD2 mutation was evaluated on Pattern of muscle affection and disease severity.
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