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. 2018 Nov;22(6):408–414. doi: 10.29252/.22.6.408

Table 3.

A summary of patients under study, including age of onset, biochemical analysis, clinical examination, and muscle biopsy results

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