ArticleCureus2025
Elastin Microfibril Interface-Located Protein 1 (EMILIN1) Mutation Mimicking Axonal Hereditary Motor Sensory Neuropathy.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
Hereditary peripheral neuropathies may present as isolated neuropathy or as a part of a more complex neurological disorder. Hereditary motor sensory neuropathy is the most common form of hereditary neuropathy. The discovery of an increasing number of causative genes over the years has significantly complicated the classification of hereditary motor sensory neuropathy. Mutations in elastin microfibril interface-located protein 1 (EMILIN1) are linked to a range of connective tissue disorders, involving the vascular system, skeletal structures, and possibly the nervous system. We report a case of axonal hereditary motor sensory neuropathy associated with a mutation in the EMILIN1 gene.
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