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Bethlem myopathy
1 OMIM reference -
3 associated genes
34 connected diseases
7 signs/symptoms
Disease Type of connection
Congenital muscular dystrophy, Ullrich type
Congenital stromal corneal dystrophy
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Autosomal recessive limb-girdle muscular dystrophy type 2B
Chuvash erythrocytosis
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Von Hippel-Lindau disease
Cobblestone lissencephaly without muscular or ocular involvement
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Fibronectin glomerulopathy
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Nodulosis-arthropathy-osteolysis syndrome
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Torg-Winchester syndrome
- Benign autosomal dominant myopathy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C535436

Gene symbol UniProt reference OMIM reference
COL6A1 P12109120220
COL6A2 P12110120240
COL6A3 P12111120250
Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal dominant inheritance
- Camptodactyly of fingers
- Myopathy
- Restricted joint mobility / joint stiffness / ankylosis
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy