Article
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.
BMC medical genetics - 7 Jun 2018
Jalali-Sefid-Dashti Mahjoubeh, Nel Melissa, Heckmann Jeannine M, Gamieldien Junaid
Abstract excerpt
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. Our aim was to identify deleterious mutations that segregate with the affected individuals in this family. METHODS: Exome...
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