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Summary
LEBER OPTIC ATROPHY AND DYSTONIA (LDYT)
LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA LDYT MARSDEN SYNDROME
500001
OMIM = Online Medalian Inheritance of Men
99718
rare
mitochondrial inheritance
symptoms
athetosis
dementia
dysarthria
dysphagia
dystonia
eye movements, abnormal
hypertonia, spasticity
hypokinesia
mental retardation
onset, childhood
optic atrophy
scoliosis
short stature
vision loss
laboratory finding
L-Lactic acid increasedplasma
L-Lactic acid increasedcerebrospinal fluid
MRI, brain, abnormalities -
Literature
Dulary Eet al.TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasisTissue Cell492150-1562017
Potelle S,et al.Manganese-induced turnover of TMEM165Biochem J47491481-14932017
Krzewinski-Recchi MA,et al.Evidence for splice transcript variants of TMEM165, a gene involved in CDGBiochim Biophys Acta18614737-7482017
Schulte Althoff S,et al.TMEM165 Deficiency: Postnatal Changes in GlycosylationJIMD Rep26021-292016