Table 2 Summary of clinical and genomic data in the analyzed BM/UCMD patients.
SAMPLE ID | COL6A1-A2-A3 Genomic Sequencing | Inheritance | Sex | Presentation | Age at review, yr | Max motor ability (Power Grade) | Contractures | Distal laxity | Skin phenotype | Creatine kinase level* | Respiratory function (% of predicted) | Cardiac evaluation | Collagen VI SKM | Array Results |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 (BM) [26] | COL6A2 c.2947_2952del 6 het (mat) | Sporadic | F | 3 yrs, difficulty in running & climbing stairs | 20 | Walked 15 mo-present | Neck, elbows, fingers, knees, ankles | Fingers | Rough skin, dystrophic nails, cheloids | 3.5 | 52% | normal | Mildly reduced at BM of several muscle fibers | chr21 g.(46352739-46352798) _ (46354892-46354936) del |
2 (UCMD) | COL6A1 c.350 C>T het p.V117A (pat) | Sporadic | M | Birth, hip dislocation | 4 | Able to walk 4 UL and 3,4 LL | Knees, ankles | Fingers | none | 1.5 | 89% | normal | ND | - |
3 (BM) | - | Familial | F | 3 yrs, difficulty in running & climbing stairs | 48 | Walked 13 mo-present | Neck, elbows, fingers, ankles | none | none | 2 | 58% | normal | ND | - |
4 (BM) | - | Familial AD | M | 3 yrs, unable to collect objects from the floor | 24 | Walked 12 mo-present | Neck, elbows, fingers, knees, ankles | Fingers | Hypertrophic scars | 1.5 | 74% | normal | Mildly reduced at BM of some muscle fibers | chr10 g:(33176784_33176843) _(33178291_33178350)del |
5 (BM) [45] | - | Familial AD | M | 18 yrs, reduced stamina | 36 | Walked 12 mo-present | Neck, fingers, knees, ankles | none | none | 4 | 95% | normal | Normal amount and localization | chr12 g:(54068784_54068843) _(54070617_54070676)dup |
6 (BM) | - | Sporadic | M | 5 yrs, difficulty in bending forward | 15 | Walked 12 mo-14 yrs | Neck, trunk, elbows, fingers, hips, knees, ankles | Fingers | none | 18 | 44% | normal | Normal amount and localization | - |
7 (BM) | - | Familial AD | M | 30 yrs, easily fatigued, falls | 60 | Walked 12 mo-present | Fingers, ankles | Fingers | none | 2.5 | ND | normal | Normal amount and localization | - |
8 (BM) | - | Familial AD | F | 5 yrs, contractures | 39 | Walked 12 mo-present | Shoulders, elbows, fingers, hips | None | none | 0.8 | ND | Sinus tachycardia | ND | - |
9 (UCMD) | - | Sporadic | F | Birth with pes talus | 3 | Walked 14 mo-present | none | Fingers | none | 2 | ND | ND | Reduced at BM of muscle fibers | - |
10 (UCMD) [11] | - | Sporadic | F | Birth with delay in motor milestones | 8 | Able to walk 4 UL and LL | none | Fingers | Follicular hyperplasia | normal | 85% | normal | Reduced at BM of muscle fibers | - |
11 (UCMD) | - | Sporadic | M | 2 yrs, hyperlaxity and hyperCK | 8 | Able to walk 1 hip flex - 3 knees ext | Fingers, hip, knees, ankles | None | none | 2 | 33% | normal | ND | - |
12 (UCMD) | - | Sporadic | F | 18 mo, unable to walk | 31 | Able to walk 24 mo-12 yrs | Neck, trunk, elbows, fingers, hips, knees, ankles | None | none | 1.5 | 62% | normal | Normal amount and localization | - |
13 (UCMD) | - | Sporadic | F | Birth, floppiness | 3 | Walked 18 mo-present | Fingers, knees, ankles | Fingers | Follicular hyperplasia | 2 | ND | ND | Reduced at the BM of muscle fibers | - |
14 (UCMD) | - | Sporadic | M | Birth | 4 | Able to walk at 3 yrs | Congenital kyphosis | Fingers | Follicular hyperplasia | normal | ND | normal | ND | - |