Dystrophinopathies genetic study (the DMD gene) [1 gene]
For the study of DMD, the following options are available:
- a study via the MLPA technique (for the detection of the deletion/duplication of one or more exons)
- a study via NGS (capable of also detecting point mutations and small indels)
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
- Duchenne muscular dystrophy
- Becker muscular dystrophy
- X-linked dilated cardiomyopathy
- Other DMD-related phenotypes
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