Duchenne muscular dystrophy
| Disorder | |
|---|---|
| OMIM #: | #310200 (Click to access OMIM database) |
| Disorder: | Duchenne muscular dystrophy |
| Also known as: | MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE |
| Clinical | |
| Phenotype: | progressive proximal muscular dystrophy, developmental delay, hypotonia, hyporeflexia, pseudohypertrophy of the calves, dilated cardiomyopathy, pulmonary hypoventilation, spinal defects, contractures, elevated serum creatine kinase, absent dsytrophin, myopathic changes by electromyography, myofiber degeneration with fibrosis, fatty infiltration on muscle biopsy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked recessive |
| Mutations | |
| 1 Amish | |
| Gene: | DMD |
| Base Change: | del.T, at nucleotide 5972 |
| Amino Acid Change: | |
| 2 Old Order Mennonite | |
| Gene: | DMD |
| Base Change: | C>T, at nucleotide 5353 |
| Amino Acid Change: | |
| Last updated: | 2022-11-03 |
| References |
|---|
| Personal communication; seen at CSC. |
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