ArticleFrontiers in endocrinology2025
A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.
Article in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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Abstract
Monogenic diabetes, which encompasses neonatal diabetes (NDM), maturity onset diabetes of the young (MODY), and several diabetes-associated syndromes, primarily arises from impaired function or abnormal development of the islets of Langerhans, particularly pancreatic β-cells responsible for insulin secretion. This condition is typically associated with a single pathogenic genetic mutation. Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary demyelinating neuropathy that is caused by a duplication of the PMP22 gene located on chromosome 17. Herein, we report a case of a young Chinese patient with MODY6 harboring a novel mutation (c. 317C>T, p. Ala106Val) in the
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