Article
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
European journal of human genetics : EJHG - 1 Nov 2013
Scoto Mariacristina, Cullup Thomas, Cirak Sebahattin, Yau Shu, Manzur Adnan Y, Feng Lucy, Jacques Thomas S, Anderson Glenn, Abbs Stephen, Sewry Caroline, Jungbluth Heinz, Muntoni Francesco
Abstract excerpt
Recessive nebulin (NEB) mutations are a common cause of nemaline myopathy (NM), typically characterized by generalized weakness of early-onset and nemaline rods on muscle biopsy. Exceptional adult cases with additional cores and an isolated distal weakness have been reported. The large NEB gene with 183 exons has been an obstacle for the genetic work-up. Here we report a childhood-onset case with distal weakness...
Topics
- Adult
- Age of Onset
- Biopsy
- Child
- Child, Preschool
- Distal Myopathies
- High-Throughput Nucleotide Sequencing
- Humans
- Infant, Newborn
- Magnetic Resonance Imaging