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Exome sequencing identifies novel dysferlin mutation in a family with paucisymptomatic heterozygous carriers
(BioMed Central, 2018)
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 ...
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
(Springer Nature, 2018)
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 ...