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Last uploaded:
August 28, 2024
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| Preferred Name | Duchenne muscular dystrophy | |
| Synonyms |
Becker's muscular dystrophy |
|
| Definitions |
X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/5006-0010 |
|
| altLabel |
Becker's muscular dystrophy
|
|
| cui |
C0013264 C0917713
|
|
| definition |
X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course.
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|
| DID |
5006-0010
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|
| Inverse of RB | ||
| notation |
5006-0010
|
|
| prefLabel |
Duchenne muscular dystrophy
|
|
| tui |
T047
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|
| subClassOf |
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