Severe γ -sarcoglycanopathy caused by a novel missense mutation and a large deletion
- 1 February 2000
- journal article
- Published by Elsevier in Neuromuscular Disorders
- Vol. 10 (2) , 100-107
- https://doi.org/10.1016/s0960-8966(99)00063-2
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Human ϵ‐sarcoglycan is highly related to α‐sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene1FEBS Letters, 1998
- ε-Sarcoglycan, a Broadly Expressed Homologue of the Gene Mutated in Limb-Girdle Muscular Dystrophy 2DJournal of Biological Chemistry, 1997
- A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of IndiaHuman Molecular Genetics, 1996
- Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan geneNature Genetics, 1996
- Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoproteinHuman Molecular Genetics, 1996
- Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular DystrophyScience, 1995
- β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12Nature Genetics, 1995
- β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complexNature Genetics, 1995
- 30th and 31st ENMC international workshops, Naarden, The Netherlands, Held 6–8 January 1995Neuromuscular Disorders, 1995
- Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyCell, 1994