Neuromuscular diseases
Amyotrophic lateral sclerosis, familial
Distal arthrogryposis, dominant
Fetal akinesia, congenital myasthenia, recessive
Pontocerebellar hypoplasia, recessive
Pontocerebellar hypoplasia, dominant
Gene | OMIM | Method |
SEPSECS | 613009 | Sequencing |
Spinal muscular atrophy, recessive
Spinal muscular atrophy, dominant
Spinal muscular atrophy with difficulty breathing, recessive
Gene | OMIM | Method |
IGHMBP2 | 600502 | Sequencing MLPA |
Spinal muscular atrophy, x-chromosomal
Gene | OMIM | Method |
UBA1 | 314370 | Sequencing |
Contact
Dr. Mert Karakaya
Telephone +49 221 478-86826
Email mert.karakaya@uk-koeln.de
Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de