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A patient with a rare leukodystrophy related to lamin B1 duplication.
A Molloy, O Cotter, R van Spaendonk, E Sistermans, B Sweeney
Irish medical journal 2012 JunSizes of these terms reflect their relevance to your search.
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.
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A Molloy, O Cotter, R van Spaendonk, E Sistermans, B Sweeney. A patient with a rare leukodystrophy related to lamin B1 duplication. Irish medical journal. 2012 Jun;105(6):186-7
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PMID: 22973660
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