Neuromuscular | The University of Chicago Genetic Services

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Characterization of mutations in fifty north american patients with X-linked myotubular myopathy.

Clinical Utility Gene Cards for centronuclear and myotubular myopathies.

Congenital Muscular Dystrophy Panel

Congenital Myasthenic Syndrome Panel

Congenital Myopathy Panel

Laminopathy Testing (LMNA)

Large duplication in MTM1 associated with myotubular myopathy.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.