Pt68EB
|
M
|
c.451dupC: p.L151Pfs*39
|
c.509C > T: p.S170F
|
3 m
|
hypotonia
|
+
|
17 m
|
died (1 y 10 m)
|
Pt68YB
|
M
|
c.451dupC: p.L151Pfs*39
|
c.509C > T: p.S170F
|
8 m
|
hypotonia
|
+
|
6 y
|
died (6 y)
|
Pt936
|
M
|
c.451dupC: p.L151Pfs*39
|
c.451dupC: p.L151Pfs*39
|
1 m
|
developmental delay, hypotonia
|
+
|
4 m
|
died (1 y 9 m)
|
Pt1244
|
M
|
c.451dupC: p.L151Pfs*39
|
c.451dupC: p.L151Pfs*39
|
1 m
|
developmental delay, hypotonia
|
+
|
11 m
|
died (2 y 9 m)
|
Pt1273
|
F
|
c.451dupC: p.L151Pfs*39
|
c.71-2_79del11ins4
|
1 m
|
developmental delay
|
+
|
1 y
|
died (3 y)
|
Pt1702
|
M
|
c.451dupC: p.L151Pfs*39
|
c.293C > T: p.P98L
|
neonate
|
–
|
psychosis, intellectual disability, fine motor dysfunction, dysarthria
|
8 m
|
alive (23 y)
|
Pt2017EB
|
M
|
c.148C > T: p.R50W
|
c.149G > A: p.R50Q
|
7 m
|
mild intellectual disability
|
mild headache
|
7 y
|
alive (8 y)
|
Pt2017YS
|
F
|
c.148C > T: p.R50W
|
c.149G > A: p.R50Q
|
1 y
|
–
|
–
|
5 y
|
alive (5 y)
|
Pt2017ES
|
F
|
c.148C > T: p.R50W
|
c.149G > A: p.R50Q
|
4 y 5 m
|
–
|
–
|
7 y
|
alive (8 y)
|
Parini 2009
|
M
|
c.149G > A: p.R50Q
|
c.149G > A: p.R50Q
|
1 m
|
–
|
developmental delay, ataxia, severe motor-sensory axonal polyneuropathy
|
2 y
|
alive (6 y)
|
Karadimas 2006
|
F
|
c.149G > A: p.R50Q
|
c.149G > A: p.R50Q
|
6 m
|
–
|
hypotonia, gross and fine motor delay, peripheral neuropathy
|
9 m
|
alive (12 y)
|
Karadimas 2006
|
F
|
c.149G > A: p.R50Q
|
c.149G > A: p.R50Q
|
1 m
|
hypotonia, hyporeflexia
|
+
|
16 m
|
died (2 y)
|
Karadimas 2006
|
F
|
c.149G > A: p.R50Q
|
c.149G > A: p.R50Q
|
4 m
|
–
|
peripheral neuropathy
|
11 y
|
alive (21 y)
|
Wong 2007
|
M
|
c.206G > A: p.W69*
|
c.206G > A: p.W69*
|
birth
|
–
|
–
|
5 m
|
died (6 m)
|
Navarro 2008
|
M
|
c.70 + 5G > A
|
c.70 + 5G > A
|
2 m
|
hypotonia
|
+
|
1 y
|
died (2 y)
|
El-Hattab 2010
|
M
|
c.262A > G: p.K88E
|
c.262A > G: p.K88E
|
neonate
|
NA
|
developmental delay, muscle weakness
|
NA
|
died (2.5 y)
|
El-Hattab 2010
|
M
|
c.485C > A: p.A162D
|
c.271_273del3: p.L91del
|
infancy
|
NA
|
hypotonia
|
NA
|
alive (4 y)
|
Mudd 2012
|
M
|
c.22_23insC
|
ND
|
infancy
|
hypotonia, mild motor delay
|
+
|
7 y
|
died (9 y)
|
Uusimaa 2014
|
M
|
c.191C > G: p.P64R
|
c.293C > T: p.P98L
|
5 m
|
–
|
progressive demyelinating peripheral neuropathy
|
3 y
|
alive (11.5 y)
|
Vilarinho 2014
|
F
|
c.148C > T: p.R50W
|
c.148C > T: p.R50W
|
5 y
|
–
|
dystonia, tremor, seizure
|
9 y
|
died (10 y)
|