Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been reported in these severe, neonatal-onset patients, but only single missense mutations have been found in milder CMD with partial laminin alpha2
EMG and nerve conduction studies in children with congenital muscular dystrophy
β Scribed by Susana Quijano-Roy; Francis Renault; Norma Romero; Pascale Guicheney; Michel Fardeau; Brigitte Estournet
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 111 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0148-639X
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