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Laminopathy
- Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized ...
- The LMNB1 gene provides instructions for making the lamin B1 protein. Lamin B1 is a structural protein called an intermediate filament protein. Intermediate ...
- Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically ...
- ... also used to treat certain processing-deficient progeroid laminopathies (PDPL; inherited disorders that cause certain proteins to ...
- ... from mutations in lamin proteins are known as laminopathies. These disorders often have overlapping signs and symptoms, ... the same LMNA mutation. Researchers suspect that some laminopathies represent variants of a single condition instead of ...
- ... G, Quijano-Roy S. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol. 2013; ... A. Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. Folia Neuropathol. 2016;54(1):1-8. doi: ...