Double HSPB1 Mutations Linked to CMT2F in Two Patients

Double HSPB1 Mutations Linked to CMT2F in Two Patients

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Double HSPB1 Mutations Linked to CMT2F in Two Patients

Researchers identified double disease-causing HSPB1 mutations in two unrelated adults with Charcot-Marie-Tooth disease type 2 subtype F (CMT2F), according to a case report. While mutations in the HSPB1 gene have been associated with CMT2F, they are usually found in only one of the gene’s copies, in which case it’s known as a heterozygous mutation. These two reported cases are the first in which patients were found to carry one of the two most common disease-causing mutations…

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