Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Afri...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:BMC Med Genet
मुख्य लेखकों: Elsayed, Liena E. O., Mohammed, Inaam N., Hamed, Ahlam A. A., Elseed, Maha A., Salih, Mustafa A. M., Yahia, Ashraf, Siddig, Rayan A., Amin, Mutaz, Koko, Mahmoud, Elbashir, Mustafa I., Ibrahim, Muntaser E., Brice, Alexis, Ahmed, Ammar E., Stevanin, Giovanni
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2018
विषय:
Case Report
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5941609/
https://ncbi.nlm.nih.gov/pubmed/29739362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0592-y
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन