Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …

The major inflammatory bowel diseases, Crohn's disease and ulcerative colitis, are both
debilitating disorders of the gastrointestinal tract, characterized by a dysregulated immune …

Summary Charcot-Marie-Tooth disease type 1 A (CMTi A) was localized by genetic mapping
to a 3 CM interval on human chromosome 17~. DNA markers within this interval revealed a …

The first and still the only book of its kind, this volume offers a concise introduction to human
genetic linkage analysis and gene mapping. Jurg Ott provides mathematical and statistical …

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant
disorder that causes episodes of focal demyelinating neuropathy following minor trauma to …

Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease
type 1 (CMT 1) is an autosomal dominant disorder of the peripheral nervous system …

Abstract Charcot–Marie–Tooth disease type 1A (CMT1A), the most frequent form of CMT, is
caused by a 1.5 Mb duplication on the short arm of chromosome 17. Patients with CMT1A …

We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of
unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an …

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary
neuropathy with liability to pressure palsies (HNPP) was established to estimate the …

Abstract Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited
peripheral neuropathy in humans, characterized electrophysiologically by decreased nerve …