Publications by authors named "Alice Monticelli"
Article Synopsis
- Neurogenetic disorders linked to mutations in spectrin genes lead to a wide range of symptoms, from peripheral nervous system issues to complex syndromes, emphasizing their diverse impact.
- An international study identified 14 families with unexplained distal weakness due to heterozygous loss-of-function variants, collecting standardized clinical and imaging data to analyze the condition further.
- The research found that all 20 patients exhibited early childhood onset of distal weakness with varying severity, along with associated foot abnormalities and muscle changes, confirming the link between these genetic variants and a new syndrome characterized by primarily myogenic effects.
