Table_3_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.DOCX

Background<p>We present the disease course and long-term follow-up of two patients who were phenotypically diagnosed with atypical Leber Hereditary Optic Neuropathy (LHON) 14 and 12 years ago, respectively, whereby whole exome sequencing revealed recently described recessive DNAJC30:c.152G>...

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التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Sanja Petrovic Pajic (14022042) (author)
مؤلفون آخرون:	Martina Jarc-Vidmar (14022045) (author), Ana Fakin (3876046) (author), Maja Sustar Habjan (14022048) (author), Jelka Brecelj (14022051) (author), Marija Volk (458928) (author), Ales Maver (5662444) (author), Borut Peterlin (398784) (author), Marko Hawlina (833844) (author)
منشور في:	2022
الموضوعات:	Neurology and Neuromuscular Diseases Neurogenetics arLHON DNAJC30:c.152G>A gene 152 A>G (p.Tyr51Cys) pathogenic variant visual acuity improvement perimetry improvement color vision improvement recessive optic neuropathy
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!

Table_3_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.DOCX

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