Table 1. Summary of Molecular Genetic Testing Used in Laing Distal Myopathy

Gene SymbolTest MethodMutations DetectedMutation Detection Frequency by Test Method 1
MYH7Sequence analysis / mutation scanning 2Sequence variants 3, 4~95% 5

1. The ability of the test method used to detect a mutation that is present in the indicated gene

2. Sequence analysis and mutation scanning of the entire gene can have similar mutation detection frequencies; however, mutation detection rates for mutation scanning may vary considerably among laboratories depending on the specific protocol used.

3. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected.

4. See Molecular Genetics.

5. Sequence analysis of the exons identifies all mutations known to date; no gross deletions or deep intronic mutations have as yet been identified in this gene.

From: Laing Distal Myopathy

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