Mutations in LRSAM1 Gene Tied to Rare CMT Subtype

Mutations in LRSAM1 Gene Tied to Rare CMT Subtype

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Mutations in LRSAM1 Gene Tied to Rare CMT Subtype

Mutations in the LRSAM1 gene result in the rare, type 2P subtype of Charcot-Marie-Tooth disease, but the location of such mutations within the gene appears to influence the inheritance pattern and possibly the disease mechanism of CMT2P, according to a recent study. The study, “Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P,” was published in the journal Neuromuscular Disorders. CMT2P is one of the rarer forms of Charcot-Marie-Tooth disease and is associated…

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