Name
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Synonmys
EDSTROM MYOPATHY ,
HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF ,
MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT ,
MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; MPRM
Classification
genetic,
neurological
Associated Genes
TTN
(Withdrawn symbols:
CMD1G,
CMH9,
CMPD4,
FLJ32040,
LGMD2J,
MYLK5,
TMD
)
Mouse Orthologs
Ttn
(Withdrawn symbols:
1100001C23Rik,
2310036G12Rik,
2310057K23Rik,
2310074I15Rik,
AF006999,
AV006427,
D330041I19Rik,
D830007G01Rik,
mdm,
shru
)
Source
OMIM:603689 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)