Article
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
Neurology - 1 Jul 1998
Pegoraro E, Marks H, Garcia C A, Crawford T, Mancias P, Connolly A M, Fanin M, Martinello F, Trevisan C P, Angelini C, Stella A, Scavina M, Munk R L, Servidei S, Bönnemann C C, Bertorini T, Acsadi G, Thompson C E, Gagnon D, Hoganson G, Carver V, Zimmerman R A, Hoffman E P
Abstract excerpt
OBJECTIVE: To determine the number of primary laminin alpha2 gene mutations and to conduct genotype/phenotype correlation in a cohort of laminin alpha2-deficient congenital muscular dystrophy patients. BACKGROUND: Congenital muscular dystrophies (CMD) are a heterogeneous group of muscle disorders...
Topics
- Base Sequence
- Biopsy
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Fluorescent Antibody Technique
- Gene Deletion
- Genotype
- Humans
- Infant