muscular dystrophy-dystroglycanopathy type B15

info · Genetic

A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.

Signs and symptoms

Centrally nucleated skeletal muscle fibers
Delayed ability to walk
Myopathy
Delayed ability to stand
Highly elevated creatine kinase
Generalized non-motor (absence) seizure
Abnormal periventricular white matter morphology
Motor delay
Increased variability in muscle fiber diameter

Also known as: MDDGB15; congenital muscular dystrophy DPM3-related