Jie Yuan Li
Affiliation: Kaohsiung Veterans General Hospital
- Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutationJie Yuan Li
Division of Neurology, Kaohsiung Veterans General Hospital, National Yang Ming University, Taiwan
J Neurol Sci 290:163-5. 2010..This family harbors a novel deletion of 1 base pair in exon 8 at nucleotide position 2245 (2245delA) in the ABCD1 gene. This is the first report of the 2245delA mutation presenting with a spinocerebellar variant of X-ALD...