muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4)

Pathology

• congenital muscular dystrophy
• dystroglycanopathy

Genetics

• autosomal recessive
• associated with defects in futukin (FKTN)

Clinical manifestations

• generalized weakness
• absence of mental retardation

Laboratory

• increased serum creatine kinase

Radiology

• magnetic resonance imaging:
  • mild white matter changes in some cases

More general terms

• muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/613152