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Summary
MITOCHONDRIAL MYOPATHY WITH DIABETES
MITOCHONDRIAL MYOPATHY, LIPID TYPE
500002
OMIM = Online Medalian Inheritance of Men
2596
rare
mitochondrial inheritance
mutation in the mitochondrially-encoded tRNA-glu gene
symptoms
ataxia
diabetes mellitus
dysarthria
hyporeflexia
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
motor retardation
muscle weakness
myopathy
neuropathy
onset, neonatal
onset, variable age
ophthalmoplegia
laboratory finding
EMG abnormalities -
Electron microscopy - abnormalmuscle
Creatine kinase increasedserum
Literature
Uestyol A,et al.Corticosterone methyl oxidase deficiency type I with normokalemia in an infantJ Clin Res Pediatr Endocrinol83356-3592016