becker muscular dystrophy omim - Axtarish в Google
The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness.
Usual age of onset in the 20s and 30s. Survival to advanced age. MOLECULAR BASIS. Caused by mutation in the dystrophin gene (DMD, 300377.0002).
Usual onset before age 6 years and death by age 20 - Incidence of 1 in 3,500 boys - About 20% of female mutation carriers may show mild muscle weakness
The DMD gene encodes dystrophin, a large muscle protein that is mutant in Duchenne (310200) and Becker (300376) muscular dystrophy.
Other forms of X-linked muscular dystrophy include, of course, Duchenne/Becker muscular dystrophy (310200), Emery-Dreifuss muscular dystrophy (310300), myopathy ...
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. ... Ada Hamosh, MD, MPH Scientific Director, OMIM. Donate To OMIM!
Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; 300376).
Muscle histology in all 4 showed changes like those of Becker muscular dystrophy with, in addition, central cores and internalized capillaries in type I fibers.
Becker (1972) suggested that the slowly progressive limb-girdle form of muscular dystrophy limited to females, as reported by Henson et al.
Mutation in the POMT1 gene can also cause a less severe congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development (type B1; MDDGB1 ...
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