October 1, 1999Muscle & Nerve

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

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Population

A patient with an apparently sporadic case of Facioscapulohumeral dystrophy and his family members

Design

Case_report

Authors

FVFrancesca VitelliUniversity of Siena MVMarcello VillanovaPresidio Ospedaliero AMAlessandro MalandriniAzienda Ospedaliera Universitaria Senese

Discussion

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Implication

Hypothesis-generating for expanded FSHD allele sizes in subclinical cases; leaves open validation before diagnostic criteria change.

Structured PICO

Population

A patient with an apparently sporadic case of Facioscapulohumeral dystrophy (FSHD) and his family members (father and older brother)

Intervention

Molecular analysis (pulsed-field gel electrophoresis) and clinical reevaluation

Outcome

Fragment sizes and clinical phenotype

The identification of a 38-kb EcoRI/BlnI fragment in an affected subject and mildly affected relatives extends the size range of disease alleles for FSHD.

Cite This Study

Vitelli et al. (1999) studied this question.

synapsesocial.com/papers/6a8692a89ce8d1ef366ed2b2 https://doi.org/10.1002/(sici)1097-4598(199910)22:10<1437::aid-mus15>3.0.co;2-7

View Full Paper

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Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider