Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20-01-2010
Symbol BMD
Location Xp21.1
Name muscular dystrophy, progressive, Becker type (dystrophin defect)
Corresponding gene DMD
Main clinical features
  • similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign
  • age of onset around 12 years; some patients have no symptoms until much later in life; loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade
  • cramps and myoglobinuria associated with elevated serum levels of creatine kinase, dilated cardiomyopathy with schizophrenia or mental illnesses
    • Genetic determination sex linked
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name dystrophin (DMD)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   under-expression reduced either in molecular weight (derived from in-frame deletions) or in expression level
    Remark(s)
  • BMD patients with mental retardation have mutations that significantly affect Dp71 expression or with mutations located in exons 75 and 76 (Daoud 2009)