Rare Disease Library

BAG3-related myofibrillar myopathy

MFM6 · Myofibrillar myopathy type 6

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

Desminopathy

Desmin-related myofibrillar myopathy

Fatal infantile hypertonic myofibrillar myopathy

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13

Laing distal myopathy

Distal myopathy type 1 · MPD1

Late-onset distal myopathy, Markesbery-Griggs type

ZASP-related myofibrillar myopathy

Muscle filaminopathy

FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy

Myofibrillar myopathy

MFM

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy