CORDIS Project
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This project investigates a rare case of a patient with congenital muscular dystrophy who lacks a protein called merosin but exhibits a mild phenotype. The research aims to identify genetic factors that may mitigate the severity of the condition and explore potential therapeutic approaches.
Merosin-deficient congenital muscular dystrophy (LAMA2-RD) is caused by mutations in the LAMA2 gene, coding for the 2 subunit of laminin-211 (merosin).
Typically, LAMA2-RD patients with absent merosin are clinically severe and unable to walk, while those producing a partially functional merosin are clinically milder. I identified a unique family in which the oldest of two affected siblings shows a novel and extremely mild phenotype despite the complete lack of merosin.
This patient is still ambu…
OSPEDALE SAN RAFFAELE SRL
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