Distal muscular dystrophy
Encyclopedia
Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the hands or feet.
Many types involve dysferlin
, but it has been suggested that not all cases do.
Types include:
DYSF is also associated with Limb-Girdle muscular dystrophy
type 2B.
Many types involve dysferlin
Dysferlin
Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene.Dysferlin is linked with skeletal muscle repair. A defect in the DYSF gene, located on chromosome 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy ...
, but it has been suggested that not all cases do.
Types include:
| Name | OMIM | Locus |
|---|---|---|
| Miyoshi myopathy (in Japan) | DYSF at 2p13.3-p13.1 Locus (genetics) In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map... |
|
| Distal myopathy with anterior tibial onset | DYSF at 2p13.3-p13.1 | |
| Welander distal myopathy | ? at 2p13 |
DYSF is also associated with Limb-Girdle muscular dystrophy
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy...
type 2B.