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Article

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Neurogenetics - 1 May 2013

Tiffin Heather R, Jenkins Zandra A, Gray Mary J, Cameron-Christie Sophia R, Eaton Jennifer, Aftimos Salim, Markie David, Robertson Stephen P

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early-onset joint contractures, progressive muscular weakness and wasting and late-onset cardiac disease. The more common X-linked recessive form of EDMD is caused by mutations in either EMD (encoding emerin) or FHL1 (encoding four and a half LIM domains 1), while mutations in LMNA (encoding lamin A/C), SYNE1 (encoding nesprin-1) and SYNE2 (encoding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Emery-Dreifuss

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Source

Identifiers

PMID: 23456229
DOI: 10.1007/s10048-013-0359-8

Genes

FHL1
EMD
LMNA

Provenance

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