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Article

Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.

Neuromuscular disorders : NMD - 1 Jul 2013

Türk Matthias, Wehnert Manfred, Schröder Rolf, Chevessier Frédéric

Abstract excerpt

Primary laminopathies caused by mutations in the LMNA gene typically display an extremely pleiotropic clinical presentation including cardiac, muscular and metabolic phenotypes. Additionally, many atypical laminopathies have been described combining features of two or more of the distinctive disorders or syndromes associated with LMNA mutations. We report on a 46-year-old female patient with a heterozygous p.R28W...

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Source

Identifiers

PMID: 23746545
DOI: 10.1016/j.nmd.2013.04.008

Genes

LMNA

Variants

Provenance

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