Families
|
F1
|
F2
|
F3
|
F316
|
---|
Ethnic
|
German
|
Arabic
|
Turkish
|
Pakistani
|
---|
Patients
|
#61525 (II-2)
|
#57415 (II-3)
|
#61982 (II-5)
|
#36355 (II-1)
|
#36355 (II-2)
|
V-2
|
V-4
|
V-5
|
V-10a
|
V-11
|
Sex
|
M
|
M
|
F
|
F
|
F
|
F
|
M
|
F
|
M
|
F
|
Clinical features
|
Microcephaly
|
+
|
+
|
?
|
?
|
?
|
?
|
?
|
?
|
+
|
+
|
Psychomotor retardation
|
+
|
+
|
?
|
?
|
?
|
+
|
+
|
+
|
+
|
+
|
Muscle hypotonia
|
-
|
+
|
+
|
-
|
+
|
?
|
?
|
?
|
+
|
+
|
HCM
|
+
|
+
|
+
|
+
|
+ later DCM
|
?
|
?
|
?
|
Mild septal Hypertrophy
|
Mild septal Hypertrophy
|
Brain MRI
|
NA
|
Hyper-intensities in basal ganglia
|
NA
|
NA
|
Normal at 20 months
|
NA
|
NA
|
NA
|
Reduced volume of cerebellar vermis + hemispheres
|
NA
|
Lactic acid level in blood
|
Increased
|
Increased
|
Increased
|
Increased
|
?
|
NA
|
NA
|
NA
|
Slightly increased
|
NA
|
Mitoch. function in muscle
|
NA
|
Decreased complex I
|
Decreased complex I
|
Decreased complex I, IV
|
Decreased complex I, IV
|
NA
|
NA
|
NA
|
NA
|
NA
|
Course
|
death at 6 months
|
Alive at 2.10 years
|
death at 11 months
|
alive at 13 years
|
death at 4.9 years
|
alive at 19 years
|
alive at 17 years
|
alive at 15 years
|
alive at 4 years
|
alive at 2.5 years
|
mtDNA
|
normal
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
NA
|
normal
|
NA
|
Zygosity
|
Compound Heterozygous
|
Homozygous
|
Homozygous
|
Homozygous
|
DNA change
|
c.[631C > T; 1559C > T]
|
c.460 T > C
|
c.1267C > T
|
c.1423 + 2 T > A
|
Protein change
|
p.[Arg211a; Thr520Ile]
|
p.Phe154Leu
|
p.Leu423Phe
|
frameshift
|
References
|
Haack et al. 2013 [3]
|
This study
|
-
HCM hypertrophic cardiomyopathy, DCM dilated cardiomyopathy, MRI magnetic resonance imaging, Mitoch. mitochondrial. Abbreviations: M male, F female, + present, - absent, NA not available, a index patient, ? no materiel available