Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039483 (giant cell arteritis)
 3,204 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial sensomotor neuropathy (FSMNX1) is reported to contribute significantly to FSMN spectrum. FSMNX1 is referred to FSMN type I but in respect to several signs is regarded as an intermediate one between type I and type II. A family including 26 patients in 5 generations has been described, 14 patients being examined in the study. Molecular genetic investigation showed that the disease was determined by mutation in connecsin gene 32 (Cx32). The mutation described is represented by a single nucleotide substitution 68T > C in codon 23 (GTA > GCA). A large proportion of presubclinical cases, preferentially in women, have been found in the family, that is in line with a type of inheritance. Substantial interfamilial disease polymorphism, especially by an age of onset, and symptoms rare for FSMN have been showed as well. Literature data on clinical genealogical, electrophysiological and molecular-genetic characteristics of FSMNX1 are analyzed comparing with own observations. Practical aspects of FSMNX1 diagnosis using DNA are discussed.
 ...
PMID:[Sensorimotor neuropathy with X-linked dominant inheritance]. 1171 76