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Article

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Neurology - 24 Oct 2000

Laforêt P, Nicolino M, Eymard P B, Puech J P, Caillaud C, Poenaru L, Fardeau M

Abstract excerpt

OBJECTIVE: To characterize the phenotypes of patients with juvenile and adult-onset acid maltase deficiency (AMD) in the French population and correlate them with genetic defects. BACKGROUND: AMD is an autosomal recessive disorder caused by the absence of the enzyme acid a-glucosidase (GAA). Patients are generally compound heterozygotes for various mutations in the GAA gene. The most common mutant allele is a...

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Source

Identifiers

PMID: 11071489
DOI: 10.1212/wnl.55.8.1122

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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