Sibling phenotype concordance in classical infantile Pompe disease.

doi:10.1002/ajmg.a.31936

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Article

Sibling phenotype concordance in classical infantile Pompe disease.

American journal of medical genetics. Part A - 1 Nov 2007

Smith Wendy E, Sullivan-Saarela Jennifer A, Li Jennifer S, Cox Gerald F, Corzo Deyanira, Chen Yuan-Tsong, Kishnani Priya S

Abstract excerpt

Pompe disease (acid-alpha-glucosidase deficiency) encompasses a clinical spectrum, ranging from severe infantile-onset disease with clinical symptoms appearing before 1 year of age with rapid progression to an early death, to late-onset disease with a much more variable age at onset and disease course. Sibling phenotype discordance has been reported for late-onset Pompe disease, but has not been studied in...

Topics

Glycogen Storage Disease Type II
Humans
Infant
Phenotype
Siblings

Source

Open in PubMed

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PMID: 17853454
DOI: 10.1002/ajmg.a.31936

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