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Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Abstract Background We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced severe unexpected symptoms of myalgia and cramps since adolescence....

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Bibliographic Details
Main Authors:	Mahjoubeh Jalali- (Author), Melissa Nel (Author), Jeannine M. Heckmann (Author), Junaid Gamieldien (Author)
Format:	Book
Published:	BMC, 2018-06-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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