No abstract available
Publication types
-
Case Reports
-
Letter
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Aged
-
Female
-
Genetic Predisposition to Disease
-
Glycogen Storage Disease / genetics
-
Glycogen Storage Disease / pathology*
-
Humans
-
Male
-
Middle Aged
-
Mutation
-
Nervous System Diseases / genetics
-
Nervous System Diseases / pathology*
-
Pedigree
-
Phenotype
-
Transcription Factors / genetics
-
Ubiquitin-Protein Ligases
Substances
-
Transcription Factors
-
RBCK1 protein, human
-
Ubiquitin-Protein Ligases
Supplementary concepts
-
Polyglucosan Body Disease, Adult Form