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Article

Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene.

Neurologia - 1 Oct 2018

Ortiz Madinaveitia S, Del Valle Sanchez M, Sagarra Mur D

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Share to Lamin Type A
Share to Muscular Dystrophy, Emery-Dreifuss
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 27461183
DOI: 10.1016/j.nrl.2016.05.006

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Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene.PMID 27461183Read ↗

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A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.Semantic proximity Read ↗

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.Semantic proximity Read ↗

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