A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course
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DOI: 10.1002/acn3.717
Abstract: Hereditary spastic paraplegia 73 (SPG73) was currently identified in only one family with variant in the neuronal isoform of carnitine palmitoyl‐transferase 1C (CPT1C) gene. We described a new family, in which affected individuals exhibited pure… read more here.
Keywords: pure hereditary; hereditary spastic; paraplegia benign; cpt1c ... See more keywords