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Article

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.

International journal of molecular sciences - 11 Aug 2022

Spadafora Patrizia, Qualtieri Antonio, Cavalcanti Francesca, Di Palma Gemma, Gallo Olivier, De Benedittis Selene, Cerantonio Annamaria, Citrigno Luigi

Abstract excerpt

Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT). The size of the gene and the reported inter and intra familial phenotypic variability make early diagnosis difficult. Genetic analysis was conducted using Next Gene Sequencing (NGS), with a panel of 40 Muscular...

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Identifiers

PMID: 36012197
DOI: 10.3390/ijms23168932
PMCID: PMC9408934

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.PMID 36012197Read ↗

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