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Article

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.

Neuromuscular disorders : NMD - 1 May 2014

Couthouis Julien, Raphael Alya R, Siskind Carly, Findlay Andrew R, Buenrostro Jason D, Greenleaf William J, Vogel Hannes, Day John W, Flanigan Kevin M, Gitler Aaron D

Abstract excerpt

Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it is a heterogeneous disorder that can present with varying symptoms. There is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European descent using exome sequencing. Exome sequencing was performed on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24594375
DOI: 10.1016/j.nmd.2014.01.014
PMCID: PMC4013999

Genes

DNAJB6

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