| Remarks |
Clinically affected; mild left thoracic prominence; constipation; achieved and still maintains all of the following without assistance: held up head at 18 months, turned in bed at 18 months, sat at 18 months, stood at 18 months, walked at 2 years, climbed stairs at 30 months, and ran at 2 1/2 years; creatine phosphokinase levels of 509 and 442; muscle biopsy showed abnormal collagen VI on IHC testing; Northstar Assessment Score of 16, previous 6 month Northstar Ambulatory assessment was 17/34; heterozygous for a COL6A1 mutation in exon 12/intron 12, c.957+1G>A, this mutation is likely a splice site mutation. |