Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
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....
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2018-06-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |