| Symbol
| IBM2
|
| Location
| 9p13.3
|
| Name
|
inclusion body myopathy 2 |
| Other name(s)
|
inclusion body myopathy, quadriceps-sparing |
| Corresponding gene
|
GNE
|
| Other symbol(s)
| HIBM, MDRV2, PBD, FTD, QSM
|
| Main clinical features
|
adult-onset, with weakness and atrophy of distal lower limb muscles, and typical histopathological findings in muscle biopsy
initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps (PMID: 22231866))
characterized by slowly progressive onset, distal and proximal muscle weakness
typical muscle pathology including rimmed vacuoles and filamentous inclusions,
including cases, with linkage disequilibrium in Persian Jews
associated or not with Paget disease of bone and frontotemporal dementia |
| Genetic determination
| autosomal recessive |
| Related entries
| see DMRV, Nonaka distal myopathy (Mim 605820)
|
| Function/system disorder
| neuromuscular |
| Type
| disease
|