Collagen VI myopathy [DS:H01341] Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Description
Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H01340 Bethlem myopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H01340 Bethlem myopathy
Collagen VI myopathy [DS:H01341] Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Description
Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Ullrich disease.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H01778 Ullrich disease
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H01778 Ullrich disease
Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bonnemann CG
Title
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
