Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease

Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined pathologically by degeneration of the myelin (CMT1) or the axon (...

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Veröffentlicht in:	Human mutation 1996, Vol.7 (2), p.167-171
Hauptverfasser:	Tan, Charles C., Ainsworth, Peter J., Hahn, Angelika F., MacLeod, Patrick M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Canada Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - metabolism Connexins - chemistry Connexins - genetics DNA Primers - chemistry Female Gap Junction beta-1 Protein Genetic Linkage Humans Male Molecular Sequence Data Pedigree Point Mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length X Chromosome
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