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Multiple mutations in the GALC gene in a patient with adult‐onset krabbe disease
Author(s) -
Luzi Paola,
Rafi Mohammad A.,
Wenger David A.
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410400119
Subject(s) - krabbe disease , leukodystrophy , gene , mutation , disease , sequence (biology) , genetics , biology , medicine , pathology
A 53‐year‐old man was diagnosed 8 years earlier with globod 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.