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Summary
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (ASAT)
301310
OMIM = Online Medalian Inheritance of Men
2802
Xq13.3
rare
X-linked recessive
mutation in the ABCB7 gene
symptoms
anemia
ataxia
dysarthria
hyperreflexia
myoclonus
onset, childhood
onset, infancy
sideroblastic anemia
tremor or twitching
laboratory finding
Hemoglobine g/dlblood
Literature
Bernardinelli E,et al.Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell deathPLoS One126e01795972017
Habarou F,et al.Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal EncephalopathyAm J Hum Genet. 2017 Aug 3101(2):283-290.1012283-2902017
Mayr JA,et al.Lipoic acid biosynthesis defectsJ Inherit Metab Dis374553-5632014
Mayr JA,et al.Lipoic acid biosynthesis defectsJ Inherit Metab Dis374553-5632014