ArticleFrontiers in pediatrics2022
Case report: Novel compound heterozygous missense mutations in the
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.Nature metabolism · 2025Article
- Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.Annals of clinical and translational neurology · 2023Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
Background: Spastic paraplegia type 54 (SPG54) is a rare inherited autosomal recessive disorder, and a complex hereditary spastic paraplegia (HSP) caused by mutations in the phospholipase Case presentation: We report a 9 years and 5 months old Chinese girl with progressive spasm of the lower limbs, muscle weakness and intellectual disability. Brain magnetic resonance imaging (MRI) showed periventricular leukomalacia and thinning of the corpus callosum. According to the Wechsler Intelligence Scale, her IQ is 42. By whole exome sequencing, novel compound heterozygous missense mutations in the Conclusions: Our study reports a very rare case of complicated HSP caused by two novel compound heterozygous mutations in the
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