Table 1 –
BCM Visceral Myopathy Cohort overview
| All N/Total (%) | All ACTG2 N/Total (%) | ACTG2 Negative N/Total (%) | |
|---|---|---|---|
| Demographics | |||
| Number of Probands | 53 | 33 | 20 |
| Sex | |||
| Male | 16/40 (40) | 13/28 (46.4) | 3/12 (25) |
| Female | 24/40 (60) | 15/28 (53.6) | 9/12 (75) |
| Clinical Features | |||
| GU Features | |||
| Megacystis | 28/36 (77.8) | 24/27 (89) | 4/9 (44.4) |
| Fetal Bladder Procedure | 4/35 (11.4) | 3/27 (11.1) | 1/8 (12.5) |
| Catheterization or Vesicostomy | 27/34 (79.4) | 24/26 (92.3) | 3/8 (37.5) |
| GI Features | |||
| Microcolon | 18/34 (52.9) | 16/26 (61.5) | 2/8 (25) |
| Bilious Emesis | 15/32 (46.8) | 13/24 (54.2) | 2/8 (25) |
| TPN Dependence | |||
| Total | 11/36 (30.5) | 9/27 (33.3) | 2/9 (22) |
| Partial | 17/36 (47.2) | 16/27 (59.2) | 1/9 (11) |
| Minimal | 8/36 (22.2) | 2/27 (7.4) | 6/9 (67) |
| Abdominal Surgery | 19/36 (52.7) | 15/26 (57.7) | 4/10 (40) |
| GI + GU involvement | 33/38 (86.8) | 28/28 (100) | 5/10 (50) |
Note: N indicates number of cases; Total represents cases with complete clinical information.
Abbreviations: BCM, Baylor College of Medicine; Cath, bladder catheterization; GI, gastrointestinal; GU, genitourinary, TPN, total parenteral nutrition.