MOLECULAR CHARACTERIZATION OF LAMININ ALPHA-2 DEFICIENCY IN MUSCULAR DYSTROPHY PATIENTS
- 2 Anni 1998/2000
- 61.975€ Totale Fondi
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Pubblicazioni Scientifiche
- 2001 BRAIN
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping
- 2000 ANNALS OF NEUROLOGY
Partial laminin alpha 2 chain deficiency in a patient with myopathy resembling inclusion body myositis
- 2000 NEUROMUSCULAR DISORDERS
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome
