LP33051-1

Dysferlin

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Description

Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene. Dysferlin is linked with skeletal muscle repair. A defect in the DYSF gene, located on chromosome 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or forth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , Wikipedia

Basic Part Properties

Part Name

Dysferlin

Part Display Name

Dysferlin

Part Type

Component (Describes the core component or analyte measured)

Created On

2003-12-16

Construct for LOINC Short Name

Dysferlin

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