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dc.contributor.authorMolloy, A*
dc.contributor.authorCotter, O*
dc.contributor.authorvan Spaendonk, R*
dc.contributor.authorSistermans, E*
dc.contributor.authorSweeney, B*
dc.date.accessioned2012-10-15T08:46:12Z
dc.date.available2012-10-15T08:46:12Z
dc.date.issued2012-06
dc.identifier.citationA patient with a rare leukodystrophy related to lamin B1 duplication. 2012, 105 (6):186-7 Ir Med Jen_GB
dc.identifier.issn0332-3102
dc.identifier.pmid22973660
dc.identifier.urihttp://hdl.handle.net/10147/248757
dc.description.abstractThe 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.
dc.language.isoenen
dc.rightsArchived with thanks to Irish medical journalen_GB
dc.subject.meshAge of Onset
dc.subject.meshDisease Progression
dc.subject.meshHereditary Central Nervous System Demyelinating Diseases
dc.subject.meshHumans
dc.subject.meshLamin Type B
dc.subject.meshMagnetic Resonance Imaging
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.titleA patient with a rare leukodystrophy related to lamin B1 duplication.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, Cork University Hospital, Wilton, Cork. a.molloy@st-vincents.ieen_GB
dc.identifier.journalIrish medical journalen_GB
dc.description.provinceLeinsteren
refterms.dateFOA2018-08-22T23:49:26Z
html.description.abstractThe 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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