muscular dystrophy-dystroglycanopathy type B4

A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKT

A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.

Signs and symptoms

• Generalized muscle weakness
• Elevated circulating creatine kinase activity
• Motor delay
• Abnormal cerebral white matter morphology
• Hypotonia
• Muscular dystrophy

Also known as: MDDGB4; congenital muscular dystrophy FKTN-related