Neuromuscular diseases

Amyotrophic lateral sclerosis, familial

Distal arthrogryposis, dominant

Fetal akinesia, congenital myasthenia, recessive

Pontocerebellar hypoplasia, recessive

Pontocerebellar hypoplasia, dominant

Spinal muscular atrophy, recessive

Spinal muscular atrophy, dominant

Spinal muscular atrophy with difficulty breathing, recessive

Spinal muscular atrophy, x-chromosomal

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

Access the request form here.

Gene	OMIM	Method
SEPSECS	613009	Sequencing

Gene	OMIM	Method
BICD2 TRPV4	609797 605427	Sequencing

Gene	OMIM	Method
IGHMBP2	600502	Sequencing MLPA

Gene	OMIM	Method
UBA1	314370	Sequencing