Cardiac involvement in laminopathies

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Cardiac involvement in laminopathies

Lamin A/C gene mutations can be associated with myocardial diseases, usually characterized by dilated cardiomyopathy and/or arrhythmic disorders. Phenotypic penetrance is age-related but expression is extremely heterogeneous, so that muscular and arrhythmic disease can be present in combination in the same patient, or one phenotypic manifestation can appear earlier than the other or even not be...

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cardiac involvement in lysosomal diseases

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ژورنال

عنوان ژورنال: Orphanet Journal of Rare Diseases

سال: 2015

ISSN: 1750-1172

DOI: 10.1186/1750-1172-10-s2-o25