Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2003 Jan;3(1):78-85.
doi: 10.1007/s11910-003-0042-9.

Limb-girdle muscular dystrophy

Katherine D Mathews  1 , Steven A Moore
Affiliations
Review

Limb-girdle muscular dystrophy

Katherine D Mathews et al. Curr Neurol Neurosci Rep. 2003 Jan.

Abstract

The limb-girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies that share a similar clinical phenotype. Despite this clinical homogeneity, at least 15 different genetic forms of LGMD are now known. Some of these share pathogenetic mechanisms with other forms of muscular dystrophy, such as the sarcoglycanopathies (LGMD 2C-F) and the dystrophinopathies (Duchenne and Becker muscular dystrophy). Some are allelic with other forms of muscular dystrophy; LGMD 1B is allelic with autosomal dominant Emery-Dreifuss muscular dystrophy. Still others introduce totally unique pathogenetic mechanisms to the study of muscular dystrophy. For example, LGMD 2H appears to be due to mutations affecting the ubiquitin-proteasome pathway. A diagnostic approach is outlined based on clinical features, genetics, and commercially available testing.

PubMed Disclaimer

References

    1. Neurology. 1995 Apr;45(4):768-72 - PubMed
    1. Neuromuscul Disord. 2001 Mar;11(2):178-85 - PubMed
    1. Neurology. 2000 Dec 26;55(12):1931-3 - PubMed
    1. Neurology. 1999 Sep 22;53(5):1119-22 - PubMed
    1. Am J Hum Genet. 2002 Sep;71(3):492-500 - PubMed