ID patient | Sex | Date of birth (year) | Neonatal onset | 3-MGA in urine | Basal ganglia involvement | Death | MDC score | Muscle biopsy | Period from onset to WES (year) |
---|---|---|---|---|---|---|---|---|---|
1 | F | 2009 | + | + | 5 | 5 | |||
2 | F | 2013 | + | + | 4 | Autopsy | 0 | ||
3 | M | 2012 | + | 5 | + | 2 | |||
4 | F | 2007 | 4 | + | 0 | ||||
5 | F | 2013 | + | + | + | 5 | 0 | ||
6 | F | 2011 | 4 | 0 | |||||
7 | M | 2006 | + | 5 | + | 7 | |||
8 | M | 2008 | + | 2 | 0 | ||||
9 | M | 2011 | + | 6 | + | 2 | |||
10 | M | 2004 | + | 5 | + | 7 | |||
11 | M | 2005 | 2 | 2 | |||||
12 | M | 2005 | + | 3 | Autopsy | 7 | |||
13 | M | 2014 | + | + | + | 4 | Autopsy | 0 | |
14 | F | 2006 | + | 3 | + Autopsy | 7 | |||
15 | F | 2008 | + | + | 4 | + | 5 | ||
16 | M | 2012 | + | 3 | 0 | ||||
17 | F | 1992 | + | 3 | + | 21 | |||
18 | F | 2003 | + | 3 | + | 7 | |||
19 | M | 2009 | 5 | + | 3 | ||||
20 | M | 2009 | 4 | 2 | |||||
21 | F | 2006 | + | 6 | + | 8 | |||
22 | M | 2010 | + | + | 8 | + | 2 | ||
23 | M | 2011 | + | + | 4 | + | 3 | ||
24 | F | 2008 | + | 6 | + | 4 | |||
25 | M | 2010 | + | + | 7 | + | 3 | ||
26 | M | 2011 | + | + | 8 | + | 2 | ||
27 | M | 2008 | + | + | + | 5 | 6 | ||
28 | M | 2004 | + | + | + | 3 | + | 11 | |
29 | F | 2007 | + | 5 | + | 7 | |||
30 | F | 2002 | + | + | 2 | + | 13 | ||
31 | F | 2005 | + | 6 | + | 9 | |||
32 | M | 2002 | + | + | 5 | Autopsy | 3 | ||
33 | F | 2006 | 3 | 2 | |||||
34 | M | 2006 | + | 6 | + | 4 | |||
35 | M | 2012 | + | 6 | + | 2 | |||
36 | M | 2006 | + | + | 5 | + | 6 | ||
37 | M | 2003 | + | + | + | 7 | + | 12 | |
38 | M | 1985 | 3 | + | 12 | ||||
39 | M | 1996 | 3 | + | 11 | ||||
40 | M | 2010 | + | + | + | 5 | Autopsy | 4 | |
41 | F | 2011 | + | 4 | + | 3 | |||
42 | F | 2013 | 2 | 0 | |||||
43 | M | 1967 | + | 2 | 10 | ||||
44 | F | 1956 | 4 | 3 | |||||
45 | F | 1995 | 2 | + | 11 | ||||
46 | M | 2009 | 3 | + | 4 | ||||
47 | M | 2013 | 2 | 0 | |||||
48 | F | 2007 | 2 | 4 | |||||
49 | M | 2012 | + | + | 6 | Autopsy | 2 | ||
50 | M | 2009 | + | + | 2 | Autopsy | 5 | ||
51 | M | 2003 | + | + | + | 5 | + | 12 | |
52 | F | 2011 | + | 5 | 3 | ||||
53 | M | 2007 | 6 | + | 7 | ||||
54 | M | 1990 | + | 6 | + | 25 | |||
55 | F | 1981 | 4 | + | 21 | ||||
56 | F | 2012 | 4 | 0 | |||||
57 | M | 2010 | + | 6 | + | 0 | |||
58 | M | 2012 | + | 6 | + | 0 | |||
59 | F | 2010 | + | 6 | + | 4 | |||
60 | M | 2003 | + | + | + | 6 | + | 10 | |
61 | M | 1989 | + | 8 | + | 23 | |||
62 | M | 1997 | + | + | 6 | + | 18 | ||
63 | F | 1989 | 4 | + | 16 | ||||
64 | F | 2012 | + | + | 6 | + | 2 | ||
65 | M | 1991 | + | + | 4 | + | 23 | ||
66 | F | 2012 | + | 5 | + | 2 | |||
67 | F | 2014 | + | + | 4 | 0 | |||
68 | M | 2012 | + | 4 | + | 0 | |||
69 | M | 2013 | 3 | 0 | |||||
70 | F | 2004 | + | 5 | + | 11 | |||
71 | M | 2001 | + | + | 5 | + | 14 | ||
72 | M | 2011 | + | + | 4 | Autopsy | 3 | ||
73 | F | 2002 | + | 3 | + | 11 | |||
74 | F | 1989 | 4 | + | 12 | ||||
75 | M | 2008 | + | + | 5 | + | 6 | ||
76 | F | 2003 | + | 4 | + | 6 | |||
77 | F | 2011 | + | + | + | 6 | + | 3 | |
78 | M | 1994 | + | 3 | 17 | ||||
79 | M | 2004 | 3 | + | 6 | ||||
80 | F | 2012 | + | + | 2 | 0 | |||
81 | F | 1990 | + | + | 4 | + Autopsy | 21 | ||
82 | F | 2000 | + | 3 | 2 | ||||
83 | F | 2003 | + | + | 4 | + | 12 | ||
84 | M | 2010 | + | 3 | + | 4 | |||
85 | F | 2013 | + | + | 3 | 0 | |||
86 | M | 2008 | + | 2 | 5 | ||||
87 | M | 2010 | 3 | 0 | |||||
88 | M | 1997 | 2 | 0 | |||||
89 | F | 2004 | + | + | + | 4 | + | 11 | |
90 | M | 2002 | + | 4 | + | 13 | |||
91 | M | 2009 | + | 6 | + | 5 | |||
92 | M | 1995 | + | 2 | 5 | ||||
93 | M | 2011 | + | + | 3 | Autopsy | 3 | ||
94 | F | 2010 | + | + | 4 | 3 | |||
95 | F | 2011 | + | 4 | + | 3 | |||
96 | M | 2011 | + | 2 | 2 | ||||
97 | M | 2005 | + | ND | 4 | + | 10 | ||
98 | F | 2012 | + | + | + | 2 | Autopsy | 2 | |
99 | F | 1974 | 2 | 0 | |||||
100 | M | 2009 | + | 3 | + | 5 | |||
101 | M | 2012 | + | 4 | 0 | ||||
102 | F | 2006 | + | 3 | 0 | ||||
103 | F | 2008 | + | + | + | 3 | Autopsy | 4 | |
104 | F | 1988 | + | 4 | + | 18 | |||
105 | F | 2014 | + | + | 5 | 0 | |||
106 | M | 2011 | + | 3 | + | 2 | |||
107 | M | 2006 | 4 | + | 8 | ||||
108 | M | 2012 | + | 3 | + | 2 | |||
109 | M | 1997 | + | + | 4 | Autopsy | 18 | ||
110 | M | 2010 | 2 | + | 4 | ||||
111 | F | 2014 | + | + | 4 | 0 | |||
112 | F | 2010 | + | + | 3 | Autopsy | 4 | ||
113 | M | 2013 | + | 4 | + | 0 |