A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

Neurogenetics

Volumn 12, Issue 2, 2011, Pages 145-153

  Kabzińska, Dagmara ^a   Niemann, Axel ^b   Drac, Hanna ^a,c   Huber, Nina ^b   Potulska Chromik, Anna ^c   Hausmanowa Petrusewicz, Irena ^a   Suter, Ueli ^b   Kochański, Andrzej ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b ETH ZURICH   (Switzerland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

GDAP1 mutations; Mitochondrial targeting; Phenotype genotype correlations; Tail anchored protein; Transmembrane domain

Indexed keywords

ASPARTIC ACID; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; GENE PRODUCT; GLYCINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GDAP 1 GENE; GENE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NEUROPATHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; RECESSIVE INHERITANCE; SKELETON MALFORMATION; SYMPTOM;

ADULT; ANIMALS; CERCOPITHECUS AETHIOPS; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME ABERRATIONS; COS CELLS; FEMALE; GENES, RECESSIVE; HELA CELLS; HUMANS; MALE; MITOCHONDRIAL MEMBRANES; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PROTEIN TRANSPORT; YOUNG ADULT;

EID: 79959923487     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0276-7     Document Type: Article

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