Rare Disease Library

Desminopathy

Desmin-related myofibrillar myopathy

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

BAG3-related myofibrillar myopathy

MFM6 · Myofibrillar myopathy type 6

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

Hereditary myopathy with early respiratory failure

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

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy

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

MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13

Late-onset distal myopathy, Markesbery-Griggs type

ZASP-related myofibrillar myopathy

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

Muscle filaminopathy

FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy

Myofibrillar myopathy

MFM

SMPX-related distal myopathy

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM