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Pelizaeus‐Merzbacher disease: a point mutation in exon 6 of the proteolipid protein ( PLP ) gene
Author(s) -
Pratt Victoria M.,
Dlouhy Stephen R.,
Hodes M. E.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03932.x
Subject(s) - exon , proteolipid protein 1 , point mutation , mutation , genetics , gene , biology , central nervous system , endocrinology , myelin , myelin basic protein
Pelizaeus‐Merzbacher disease has been known since 1885. It is characterized by severe dysmyelination of the central nervous system. We describe a new mutation in exon 6 of the proteolipid protein gene in a 9‐year‐old boy with severe connatal Pelizaeus‐Merzbacher disease.