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Table 1 Patients clinical presentation

From: Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

Patient ID Gender Age Genotype Clinical presentation
     Pain Dyspnea limbs numbness and coldness Watery diarrhea
     Chest Abdomen Limbs  
U L
V-2 M 33 Hmz* + + + + + + +
VI-27 F 33 Hmz + + + + + + +
VI-26 F 42 Hmz + + + + + +
VII-1 M 34 Hmz + + + + + +
VII-3 M 33 Hmz + + + + + + +
VI-23 M 34 Hmz* + + + + + + +
Av.   34.83 (+ 7, −1.8)         
Group-II Patients
 V-15 M 69 Het. + + + + +
 V-22 M 69 Het. + + +
 VI-24 M 54 Het. + +
 Av.   64 (+ 5, −10)         
  1. Detailed clinical data for the affected individuals from group-I (VI-5, VII-1, VII-3, VI-23, VI-26 and VI-27) and group-II (V-22, VI-24 and V-15) (Figure-1) are summarized in Tables 1 and 2
  2. M male, F female, U Upper, L Lower, Av Average, R.D Recurrent Dissection, Hmz homozygous, Hmz* the homozygous state was inferred, Het Heterozygous