Visit Metagene.de!
Summary
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (EMPF1)
614388
OMIM = Online Medalian Inheritance of Men
330050
12p11.21
rare
autosomal recessive
autosomal dominant
mutation in the DNM1L gene
symptoms
areflexia
cardiac involvement, cardiac defects
cardiomyopathy
cerebral atrophy
developmental delay
dysarthria
dysmorphism
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
nystagmus
onset, childhood
onset, infancy
onset, neonatal
psychomotor retardation
pyramidal signs
status epilepticus
strabismus
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid mmol/lblood
EEG abnormalities -
Literature
Sancho P,et al.A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutationNeurogenetics002017
Kohda M,et al.A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesPLoS Genet121e10056792016
K-¦l-¦c M,et al.A patient with mitochondrial disorder due to a novel mutation in MRPS22Metab Brain Dis002017
Saada A,et al.Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutationJ Med Genet4412784-7852007
Viering DHHM,et al.Genetic causes of hypomagnesemia, a clinical overviewPediatr Nephrol3271123-11352017
Smits P,et al.Mutation in subdomain G of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscleEur J Hum Genet193275-2792011
Ghezzi D,et al.Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factorAm J Hum Genet864639-6492010