The diseases on these pages

(last modified November 20, 2004)

A general overview can be found in the "Gene, protein and disease Table"

Duchenne / Becker muscular dystrophy (DMD / BMD)
(X-linked dilated cardiomyopathy - XLDC)
- dystrophin (DMD) - gene
  - DMD variations (small changes - point mutations)
  - deletion and duplication mutations (one to more exons, not sequenced)
  - disease causing in animals

Limb-Girdle muscular dystrophy (LGMD)
- autosomal dominant (type 1)
- autosomal recessive (type 2)
  - sarcoglycanopathies
    - MDS - sarcolgycan-epslon (SGCE): gene/disease, mutation database

Congenital muscular dystrophies (CMD)
Dilated cardiomyopathy (DCM)
- X-linked
  - XLDC - DMD (dystrophin): gene/disease / mutation database
- autosomal dominant
  - CDM1A - lamin A/C: gene/disease, mutation database
  - CMD1L - sarcoglycan delta: gene/diseae, mutation database
Emery-Dreifuss muscular dystrophy (EDMD)
- X-linked
  - EDMD - EMD (emerin): gene/disease / mutation database
- autosomal dominant
  - EDMD2 - LMNA: gene/disease / mutation database
- autosomal recessive
  - EDMD3 - LMNA: gene/disease / mutation database
Other diseases
- Retinoschisis (XLRS) - retinoschisin (RS1)
Links to other muscular dystrophy mutation databases
- general mutation databases
  - Human Gene Mutation Database (HGMD) - Cardiff
  - European Bioinformatics Institute (EBI) - mutations
- Locus Specific DataBases (LSDB's)
  - Human Genome Variation Society (HGVS)
  - nomenclature used to describe mutations
Links to diagnostic services
- diagnosis/epidemiology of neuromuscular disorders: European Neuro-Muscular Centre (ENMC)
  - diagnostic criteria
- Concerted Action on Genetic Services in Europe (CAGSE): Genetic Enquiry Center Manchester
- European directory of laboratories performing DNA diagnosis: EDDNAL