A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy

Clinical Genetics

Volumn 85, Issue 3, 2014, Pages 290-292

  Schottmann, G ^a,b   Stenzel, W ^c   Lutzkendorf S ^a,b   Schuelke, M ^a,b   Knierim, E ^a,b  

^a Department of Neuropediatrics ^*  (Germany)

^b NeuroCure Clinical Research Center   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BSCL2 PROTEIN; C19ORF12 PROTEIN; CARBIDOPA; CREATINE KINASE; CTDP1 PROTEIN; DEFERIPRONE; DOPA; EARLY GROWTH RESPONSE FACTOR 2; FA2H PROTEIN; FGD4 PROTEIN; FIG4 PROTEIN; FTL PROTEIN; GDAP1 PROTEIN; LITAF PROTEIN; LMNA PROTEIN; MED25 PROTEIN; MITOCHONDRIAL PROTEIN; MPZ PROTEIN; MTMR2 PROTEIN; NDRG1 PROTEIN; NEFL PROTEIN; PANTOTHENATE KINASE 2; PERIPHERAL MYELIN PROTEIN 22; PLA2G6 PROTEIN; PRX PROTEIN; SBF2 PROTEIN; SH3TC2 PROTEIN; SLC12AC PROTEIN; SUMO 1 PROTEIN; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG; C19ORF12 PROTEIN, HUMAN;

ADULT; ARTICLE; ATTENUATION; BRADYKINESIA; CASE REPORT; CEREBELLUM ATROPHY; CREATINE KINASE BLOOD LEVEL; DRUG TREATMENT FAILURE; EXOME; EXTRAPYRAMIDAL SYNDROME; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GLOBUS PALLIDUS; HUMAN; MALE; MOTOR NEUROPATHY; MUSCLE BIOPSY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SEVERE PERIPHERAL MOTOR AXONAL NEUROPATHY; SUBSTANTIA NIGRA; YOUNG ADULT; ATROPHY; BIOPSY; CEREBELLAR DISEASES; CHILD; CONSANGUINITY; GENETICS; MOTONEURON; MUSCLE; NERVE CONDUCTION; NERVE FIBER; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES;

ATROPHY; AXONS; BIOPSY; CEREBELLAR DISEASES; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL PROTEINS; MOTOR NEURONS; MUSCLES; NEURAL CONDUCTION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 84893005125     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12137     Document Type: Article

References (4)

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