Table 1. Summary of the clinical features of CMD patients.
Sample | Age | Sex | Ethnicity | Clinical presentation |
CMD-1 | - | - | - | CMD XX-XX |
CMD-2 | - | - | - | CMD XX-XX |
CMD-3 | - | - | - | CMD XX-XX |
CMD-4 | - | - | - | CMD XX-XX |
CMD-5 | - | - | - | CMD XX-XX |
CMD-6 | - | - | - | CMD XX-XX |
CMD-7 | - | - | - | CMD XX-XX |
CMD-8 | 8 | M | ND | High CK |
CMD-9 | 30 | M | East Indian | Myogenic by IHC, high CK |
CMD-10 | 6 | M | Hispanic | Gower's sign, DD, muscle weakness, normal MRI and CK |
CMD-11 | 1 | F | African American | High CK |
CMD-12 | 12 | M | Caucasian | Muscle weakness, high CK |
CMD-13 | - | - | - | CMD XX-XX |
CMD-14 | - | - | - | CMD XX-XX |
CMD-15 | - | - | - | CMD XX-XX |
CMD-16 | - | - | - | CMD XX-XX |
CMD-17 | - | - | - | CMD XX-XX |
CMD-18 | - | - | - | Ophthalmoplegia |
CMD-19 | - | - | - | CMD XX-XX |
CMD-20 | - | - | - | CMD XX-XX |
CMD-21 | - | - | - | CMD XX-XX |
CMD-22 | - | - | - | High CK, normal MRI |
CMD-23 | - | - | - | High CK, on mechanical ventilators |
CMD-24 | - | - | - | CMD XX-XX |
CMD-25 | - | - | - | CMD XX-XX |
CMD-26 | - | - | - | High CK, WM abnormality on MRI, facial weakness |
NP, not performed; -, no data available; CSF, cerebrospinal fluid; IHC, immunohistochemistry; CK, creatinine kinase; DD, developmental delay; CMD XX-XX, possible diagnosis of CMD.