NEMALINE MYOPATHY 2

NEM2

http://purl.bioontology.org/ontology/OMIM/256030

NEM2

C1850569

2q22

AMC6

NEM2

NEB

http://purl.bioontology.org/ontology/OMIM/MTHU010754

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU001546

http://purl.bioontology.org/ontology/OMIM/MTHU003664

http://purl.bioontology.org/ontology/OMIM/MTHU032364

http://purl.bioontology.org/ontology/OMIM/MTHU032362

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU074682

http://purl.bioontology.org/ontology/OMIM/MTHU000990

http://purl.bioontology.org/ontology/OMIM/MTHU000958

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU031268

http://purl.bioontology.org/ontology/OMIM/MTHU010743

http://purl.bioontology.org/ontology/OMIM/MTHU044371

http://purl.bioontology.org/ontology/OMIM/MTHU010749

http://purl.bioontology.org/ontology/OMIM/MTHU001140

http://purl.bioontology.org/ontology/OMIM/MTHU010733

http://purl.bioontology.org/ontology/OMIM/MTHU001039

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU004523

http://purl.bioontology.org/ontology/OMIM/MTHU010747

http://purl.bioontology.org/ontology/OMIM/MTHU000901

http://purl.bioontology.org/ontology/OMIM/MTHU010742

http://purl.bioontology.org/ontology/OMIM/MTHU010752

http://purl.bioontology.org/ontology/OMIM/MTHU000988

http://purl.bioontology.org/ontology/OMIM/MTHU010750

http://purl.bioontology.org/ontology/OMIM/MTHU010755

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU000355

http://purl.bioontology.org/ontology/OMIM/MTHU004486

http://purl.bioontology.org/ontology/OMIM/MTHU041384

http://purl.bioontology.org/ontology/OMIM/MTHU074681

http://purl.bioontology.org/ontology/OMIM/MTHU032361

http://purl.bioontology.org/ontology/OMIM/MTHU010734

http://purl.bioontology.org/ontology/OMIM/MTHU010732

http://purl.bioontology.org/ontology/OMIM/MTHU010738

http://purl.bioontology.org/ontology/OMIM/MTHU074683

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU010748

http://purl.bioontology.org/ontology/OMIM/MTHU010731

Phenotype description, molecular basis known.

256030

3

pound

NEMALINE MYOPATHY 2

Many adults with typical form remain ambulatory [MISCELLANEOUS]

Onset in infancy [MISCELLANEOUS]

Slowly progressive or nonprogressive course [MISCELLANEOUS]

Caused by mutation in the nebulin gene (NEB, 161650.0001) [MOLECULAR BASIS]

Extraocular muscles are not involved [MISCELLANEOUS]

Highly variable severity [MISCELLANEOUS]

T047