No abstract available
MeSH terms
-
Charcot-Marie-Tooth Disease / genetics*
-
DNA Mutational Analysis / methods*
-
Exome / genetics*
-
Female
-
Gangliosidosis, GM1 / diagnosis*
-
Gangliosidosis, GM1 / genetics*
-
Humans
-
Mutation / genetics*
-
Protein Kinase C / genetics*
-
Spinocerebellar Ataxias / genetics*
-
TRPV Cation Channels / genetics*
Substances
-
TRPV Cation Channels
-
TRPV4 protein, human
-
protein kinase C gamma
-
Protein Kinase C