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Ann Neurol. 1996 Jul;40(1):116-9.

Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.

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  • 1Department of Medicine, Jefferson Medical College, Philadelphia, PA 19107, USA.

Abstract

A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms, and two unique mutations.

PMID:
8687180
[PubMed - indexed for MEDLINE]
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