Nuclear encoded genes can cause early-onset mitochon-dria-related disorders such as Leigh or Leigh-like syndrome.Defects in DNAJC30 have been implicated in mitochondria-related diseases such as Leber’s hereditary opt...Nuclear encoded genes can cause early-onset mitochon-dria-related disorders such as Leigh or Leigh-like syndrome.Defects in DNAJC30 have been implicated in mitochondria-related diseases such as Leber’s hereditary optic neuropa-thy(LHON)and Williams syndrome(WS).However,the role of DNAJC30 in disease progression concerning mitochon-drial dysfunction has yet to be fully understood.Here we report a 12-year-old boy with acute dystonia onset at age 10.展开更多
基金supported in part by the U.S.National Institutes of Health R01 grants(No.CA236399,CA243386,CA271497,DK124116)to J.C.,and the Simms/Mann Family Foundation to J.C.
文摘Nuclear encoded genes can cause early-onset mitochon-dria-related disorders such as Leigh or Leigh-like syndrome.Defects in DNAJC30 have been implicated in mitochondria-related diseases such as Leber’s hereditary optic neuropa-thy(LHON)and Williams syndrome(WS).However,the role of DNAJC30 in disease progression concerning mitochon-drial dysfunction has yet to be fully understood.Here we report a 12-year-old boy with acute dystonia onset at age 10.
