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

• Những tác giả chính: Mahjoubeh Jalali- (Tác giả), Melissa Nel (Tác giả), Jeannine M. Heckmann (Tác giả), Junaid Gamieldien (Tác giả)
• Định dạng: Sách
• Được phát hành: BMC, 2018-06-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

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....