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. 2019 Jun 20;105(1):132–150. doi: 10.1016/j.ajhg.2019.05.015

Figure 1.

Figure 1

Distribution and Molecular Results of Enrolled Individuals in the Arthrogryposis Cohort and Families with Multilocus Pathogenic Variation

(A) Distribution of individuals enrolled in arthrogryposis cohort.

(B) A pie chart displaying the distribution of molecular findings for each individual in this study (i.e., phase II) of the arthrogryposis cohort (89 families). Multilocus pathogenic variant model families were classified according to muscle gene status. A corresponding explanation for the colors in the pie chart is below the chart. The abbreviation CNV = copy number variation.

(C) Families affected with multilocus pathogenic variation (19 families) from phase I + II. Abbreviations are as follows: HMZ = homozygous, HTZ = heterozygous, Comp HTZ = compound heterozygous, and XL = hemizygous male.