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Article

Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.

Genetic testing - 1 Jan 2007

Rosas-Vargas H, Gómez-Díaz B, Ruano-Calderón L, Fernández-Valverde F, Roque-Ramírez B, Portillo-Bobadilla T, Ordoñez-Razo R M, Minauro-Sanmiguel F, Coral-Vázquez R

Abstract excerpt

Dysferlin protein (DYSF) is a ferlin family member found in sarcolemma and is involved in membrane repair, muscle differentiation, membrane fusion, etc. The deficiency of DYSF due to mutations is associated with different pathologic phenotypes including the autosomal recessive limb-girdle type 2B phenotype (LGMD2B), a distal anterior compartment myopathy (DMAT), and the Miyoshi myopathy (MM). In this study, we...

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Source

Identifiers

PMID: 18294055
DOI: 10.1089/gte.2007.0039

Genes

DYSF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.PMID 18294055Read ↗

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A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.Semantic proximity Read ↗

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