Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic...

Neurofibromatosis type 1 (NF1) is a common autosomaldominantly inherited tumour predisposition syndrome affecting 1/3000-4000 individuals worldwide (Huson et al., 1988; Lammert et al., 2005). This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. NF1 manifests a variety of characteristic clinical features, including hyperpigmentary abnormalities of the skin (caf -au-lait macules and inguinal/axillary freckling), iris hamartomas (Lisch nodules) and the growth of benign peripheral nerve sheath tumours (neurofibromas) in the skin. These...

This book presents in comprehensive detail the current state of knowledge of the molecular genetics, molecular biology and cellular biology of NF1, one of the most common dominantly inherited human disorders, which affects 1 in 3000 individuals worldwide.