Letters to the editor
Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred
| The first 150 words of the full text of this article appear below. |
EDITOR
The autosomal recessive limb-girdle
muscular dystrophies (AR-LGMD) are clinical entities characterised by
primary and progressive muscle degeneration, mainly at the pelvic and
shoulder girdles, with great variability in the clinical course. Some
patients present a severe course similar to Duchenne muscular
dystrophy, while others maintain the capacity to walk even in adult
life.1-3 At least eight autosomal recessive genes have
been mapped. The chromosome localisation of these genes and their
products, and a brief comment on the clinical course of each type of
AR-LGMD are summarised in table 1. Of these mapped genes, six have been cloned: the gene responsible for LGMD2A which encodes calpain 3, a
muscle specific protease,30 the genes that cause the known sarcoglycanopathies (LGMD2C-LGMD2F),11 15 20 22 26
and, recently, the gene for LGMD2B which encodes a protein called
"dysferlin" by the investigators.8
| Table Removed (Available Only in the Full Text) |
LGMD2C is a Duchenne-like muscular dystrophy particularly prevalent in
North Africa,10-12 31 32 but rare in other
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