Primary muscle diseases

Congenital myopathy, dominant/recessive
Gene OMIM Method
ACTA1

MYH7

SEPN1

MEGF10

102610

160760

606210

612453

Sequencing

Other diagnoses (consultation)

Duchenne muscular dystrophy, X-recessive
Gene OMIM Method
DMD 300377 Sequencing

MLPA

Muscular dystrophy, dystroglycanopathies, recessive
Gene OMIM Method
ANO5

B3GALNT2

B3GNT1

CAPN3

CAV3

DYSF

FKRP

FKTN

GMPPB

ISPD

LARGE

POMGNT1

POMGNT2

POMK

POMT1

POMT2

TMEM5

608662

610194

114240

601253

605517

603009

606596

607440

615320

614631

603590

606822

614828

615247

607423

607439

605862

Sequencing
Ullrich muscular dystrophy, Bethlem muscular dystrophy, dominant/recessive
Gene OMIM Method
COL6A1

COL6A2

COL6A3

120220

120240

120250

Sequencing
Muscular dystrophies, dominant
Gene OMIM Method

LMNA

MYOT

DNAJB6

150330

604103

611332

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​​​​​​​

Access the request form here.

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