Rare Disease Library

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related 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

Desminopathy

Desmin-related myofibrillar myopathy

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Idiopathic dropped head syndrome

Isolated neck extensor myopathy

KLHL9-related early-onset distal myopathy

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

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

OBSOLETE: LIMS2-related myopathy

SMPX-related distal myopathy

Thrombomodulin-related bleeding disorder

THBD-related bleeding disorder · THBD-related coagulopathy

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM