May 1, 1995Human Molecular Genetics

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

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Population

Patients with facioscapulohumeral muscular dystrophy from 14 large 4q35-linked families and 25 isolated…

Design

Cohort

Authors

PLPeter LuntDartmouth College PJPhilip JardineBristol Royal Hospital for Children MKManuela C. KochNuvisan (Germany)

Discussion

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Implication

In FSHD, quantitative variation in D4F104S1 fragment size correlates with age at onset and disease severity, accounting for significant phenotypic variation.

Structured PICO

Population

Patients with facioscapulohumeral muscular dystrophy (FSHD) from 14 large 4q35-linked families and 25 isolated cases with a de novo D4F104S1 DNA fragment.

Outcome

Correlation between proband age at onset and FSHD-associated D4F104S1 fragment sizesurrogate

In FSHD, quantitative variation in D4F104S1 fragment size correlates with age at onset and disease severity, accounting for significant phenotypic variation.

Cite This Study

Lunt et al. (1995) studied this question.

synapsesocial.com/papers/6a83a5e68dcee831255bcab4 https://doi.org/10.1093/hmg/4.5.951

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Implication

In FSHD, quantitative variation in D4F104S1 fragment size correlates with age at onset and disease severity, accounting for significant phenotypic variation.

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider