Journal of medical genetics
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Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS). ⋯ This study identifies new genetic associations with ALS and provides phenotype-genotype correlations with both previously reported and novel mutations.
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Glomus tumours are benign painful tumours of the glomus body, a thermoregulatory shunt in the digits. Glomus tumours of the fingers and toes are associated with the monogenic disorder neurofibromatosis type 1 (NF1) and are recently recognised as part of the NF1 phenotype. ⋯ Glomus tumours in NF1 are more common than previously recognised and NF1 patients should be specifically queried about fingertip or toe pain.