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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
- Source :
- Nature Genetics. 10:243-245
- Publication Year :
- 1995
- Publisher :
- Springer Science and Business Media LLC, 1995.
-
Abstract
- Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein, has been reported in severe childhood autosomal recessive muscular dystrophy (SCARMD). This is a Duchenne-like disease affecting both males and females first described in Tunisian families. Adhalin deficiency has been found in SCARMD patients from North Africa Europe, Brazil, Japan and North America (SLR & KPC, unpublished data). The disease was initially linked to an unidentified gene on chromosome 13 in families from North Africa, and to the adhalin gene itself on chromosome 17q in one French family in which missense mutations were identified. Thus there are two kinds of myopathies with adhalin deficiency: one with a primary defect of adhalin (primary adhalinopathies), and one in which absence of adhalin is secondary to a separate gene defect on chromosome 13. We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa. Disease severity varies in age of onset and rate of progression, and patients with null mutations are the most severely affected.
- Subjects :
- Male
Models, Molecular
Adolescent
Protein Conformation
Molecular Sequence Data
Genes, Recessive
Biology
Severity of Illness Index
Muscular Dystrophies
Dystrophin
Sarcoglycans
Genetics
medicine
Humans
Point Mutation
Missense mutation
Muscular dystrophy
Child
SGCA
Chromosome 13
Membrane Glycoproteins
Base Sequence
medicine.disease
Cytoskeletal Proteins
Sarcoglycanopathy
Child, Preschool
biology.protein
Female
Age of onset
Sarcoglycanopathies
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....882fe7339a666d988d2f2831c9682b82