Table 3.
Patients | Gender | Age (y) | Age at follow-up (months) | Age of onset | Consanguinity | Prominent symptoms | MRI before the age one | CK (U/l)# | LDH (U/l) | Aldolase (U/l) | Muscle biopsy/IHC |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 7 | 10 | birth | Yes | Muscle weakness, inactivity, hypotonia, kyphosis | normal | 1248 | 2005 | 13.9 | Merosin positive CMD |
2 | M | 5 | 5 | birth | No | Hypotonia, myopathic face, kyphoscoliosis | normal | 1762 | 871 | 21.0 | Merosin positive CMD |
3 | M | 6 | 5 | birth | Yes | Hypotonia, kyphosis | normal | 6304 | NA | 44.0 | Merosin positive CMD |
CK normal range: 200-400 U/l depending on the laboratory[11] .NA, not assigned