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Gene: DMD

Green List (high evidence)

Very well-established gene disease association.
The most distinctive feature of Duchenne muscular dystrophy is a progressive proximal muscular dystrophy with characteristic pseudohypertrophy of the calves. Myocardial involvement appeared in a high percentage of DMD patients by about 6 years of age. intellectual impairment has also been reported in some individuals.

Becker MD is similar to Duchenne in terms of muscular weakening and wasting, but age of onset is around 12 years of age, with some patients not having symptoms until much late in life.


Phenotypes are best correlated with the degree of dystrophin protein expression. In general, variants leading to a complete loss-of-function cause DMD while those that reduce dystrophin protein levels and/or function lead to BMD (PMID 16770791).
Pathogenic variants of the muscle promoter and first exon of the DMD gene that affect cardiac-specific dystrophin expression lead to CMD3B.
Penetrance in carrier females varies and may depend on variant type and pattern of X-chromosome inactivation. Carrier females may manifest a dilated cardiomyopathy phenotype.
Out of frame deletions/duplications - DMD
In frame - BMD and XLDCM

Created: 24 Oct 2024, 12:45 p.m. | Last Modified: 24 Oct 2024, 12:45 p.m.

Panel Version: 1.486

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Becker muscular dystrophy MIM#300376; Duchenne muscular dystrophy MIM#310200

Publications

• 20301298