Browsing by Author "Nel, Melissa"
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Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
Jalali-Sefid-Dashti, Mahjoubeh; Nel, Melissa; Heckmann, Jeannine M.; Gamieldien, Junaid (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 ... -
Exome sequencing identifies novel dysferlin mutation in a family with paucisymptomatic heterozygous carriers
Jalali-Sefid-Dashti, Mahjoubeh; Nel, Melissa; Heckmann, Jeannine M.; Gamieldien, Junaid (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 ...