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

• প্রধান লেখক: Mahjoubeh Jalali- (লেখক), Melissa Nel (লেখক), Jeannine M. Heckmann (লেখক), Junaid Gamieldien (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2018-06-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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....