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    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 ...
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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 ...

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    AuthorGamieldien, Junaid (2)Heckmann, Jeannine M. (2)Jalali-Sefid-Dashti, Mahjoubeh (2)Nel, Melissa (2)SubjectCramps (2)
    Dysferlinopathy (2)
    Exome (2)Myalgia (2)Pauci-symptomatic carriers (2)... View MoreDate Issued2018 (2)

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