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Human Mutation, ISSN 1059-7794, 11/2017, Volume 38, Issue 11, pp. 1569 - 1578
Charcot‐Marie‐Tooth disease type 4D (CMT4D) is an autosomal‐recessive demyelinating form of CMT characterized by a severe distal motor and sensory neuropathy.... 
Charcot‐Marie‐Tooth | targeted next‐generation sequencing | NDRG1 | novel mutation | functional characterization | Charcot-Marie-Tooth | targeted next-generation sequencing | CMT4D | HEREDITARY MOTOR | NEUROPATHY | GENE | SH3TC2 | GENETICS & HEREDITY | EXPRESSION | ONSET | Gene Duplication | Refsum Disease - metabolism | Sequence Deletion | Humans | Refsum Disease - genetics | Male | Intracellular Signaling Peptides and Proteins - metabolism | Mutation, Missense | Charcot-Marie-Tooth Disease - genetics | Gene Knockdown Techniques | Young Adult | Cell Cycle Proteins - genetics | Adult | Female | Charcot-Marie-Tooth Disease - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Receptors, LDL - genetics | rab4 GTP-Binding Proteins - metabolism | Genetic Association Studies | Cell Cycle Proteins - metabolism | Receptors, LDL - metabolism | Genotype | Sequence Analysis, DNA | Refsum Disease - diagnosis | Phenotype | Adolescent | Alleles | Protein Binding | High-Throughput Nucleotide Sequencing | Charcot-Marie-Tooth Disease - diagnosis | Amino Acid Substitution | Genetic aspects | Low density lipoproteins | Analysis | Glutamine | Lipoproteins (low density) | Cell culture | Exons | Confocal microscopy | Neuropathy | Cell surface | Proteins | Missense mutation | Transfection | Demyelination | Charcot-Marie-Tooth disease | Receptor density | Mutation | Protein transport
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2006, Volume 1, Issue 1, pp. 47 - 47
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 161 - 165
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Kidney International, ISSN 0085-2538, 04/2008, Volume 73, Issue 8, pp. 971 - 976
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Journal Article
Journal Article