Article
Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review.
BMC pediatrics - 5 Mar 2026
Bardakov Sergey N, Emelin Alexey M, Nikitin Sergey S, Suslov Vasiliy М, Dmitrochenko Ivan V, Kovalevskaya Irina S, Korzun Polina R, Yakovlev Ivan A, Isaev Аrtur А, Deev Roman V
Abstract excerpt
The congenital dysferlinopathy phenotype is the rarest and earliest manifestation variant, described in two closely related Spanish and Turkish families, with a homozygous pathogenic frameshift variant in exon 26 of the DYSF gene.This article presents a 1.6-year-old patient from a consanguineous Uzbek family with a clinical diagnosis of congenital dysferlinopathy phenotype and Marinesco–Sjögren syndrome with...
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