A patient with a rare leukodystrophy related to lamin B1 duplication.
Affiliation
Department of Neurology, Cork University Hospital, Wilton, Cork. a.molloy@st-vincents.ieIssue Date
2012-06MeSH
Age of OnsetDisease Progression
Hereditary Central Nervous System Demyelinating Diseases
Humans
Lamin Type B
Magnetic Resonance Imaging
Male
Middle Aged
Metadata
Show full item recordCitation
A patient with a rare leukodystrophy related to lamin B1 duplication. 2012, 105 (6):186-7 Ir Med JJournal
Irish medical journalPubMed ID
22973660Abstract
The hereditary leukodystrophies are rare disorders caused by molecular abnormalities leading to destruction of or failure of development of central white matter. For almost 30 years there has been increasing recognition of later onset Autosomal Dominant Leukodystrophy (ADLD). We report the first genetically confirmed case of lamin B1 duplication causing ADLD from Ireland.Item Type
ArticleLanguage
enISSN
0332-3102Collections
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