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August 1, 2005Archives of Neurology

Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population

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Key result

The novel R1905X DYSF founder mutation in homozygosity produced 3 different dysferlinopathy phenotypes without intrafamilial heterogeneity in all 8 evaluated patients from Spain.

Population

8 patients with dysferlinopathy from 5 unrelated families

Design

Case_series

Authors

JVJuan J. VílchezPGP. GallanoEGEduard Gallardo

Discussion

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Overview

Variable phenotypes in this founder cohort warrant cautious prognosis counseling; leaves open modifier identification in homogeneous dysferlinopathy patients.

Study Design

Type

Observational (n=8)

Structured PICO

P
Population
8 patients with dysferlinopathy from 5 unrelated families in Sueca, Spain.
E
Exposure
Clinical assessment, muscle biopsy with immunohistochemistry, and genetic analysis (single-stranded conformation polymorphism and direct sequencing)
O
Outcome
Identification of genetic mutations and clinical phenotypes

The identification of the R1905X DYSF founder mutation in a Spanish population highlights phenotypic variability in dysferlinopathies and provides a homogeneous cohort for studying modifying factors.

Cite This Study

Vílchez et al. (2005) conducted an observational in dysferlinopathy (n=8). R1905X mutation in the DYSF gene was evaluated on Clinical phenotypes. The novel R1905X DYSF founder mutation in homozygosity produced 3 different dysferlinopathy phenotypes without intrafamilial heterogeneity in all 8 evaluated patients from Spain.

synapsesocial.com/papers/6aa465f04d2c64a7b973058dhttps://doi.org/10.1001/archneur.62.8.1256
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Also Consider

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  1. 1Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype2001 · 270 citations
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  3. 3Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy2000 · 119 citations
  4. 4Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population.1995 · 1,968 citations
  5. 5AUTOSOMAL RECESSIVE DISTAL MUSCULAR DYSTROPHY AS A NEW TYPE OF PROGRESSIVE MUSCULAR DYSTROPHY1986 · 208 citations