Phenotypic variability in giant axonal neuropathy

Neuromuscular Disorders

Volumn 19, Issue 4, 2009, Pages 270-274

  Tazir, Meriem ^a   Nouioua, Sonia ^a   Magy, Laurent ^b   Huehne, Kathrin ^c   Assami, Salima ^a   Urtizberea, Andoni ^d   Grid, Djamel ^e   Hamadouche, Tarik ^f   Rautenstrauss, Bernd ^g   Vallat, Jean Michel ^b  

^a Benyoucef Benkhedda   (Algeria)

^b LIMOGES UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^d European Neuromuscular Center ENMC   (France)

^e GÉNÉTHON   (France)

^f UNIVERSITY OF BOUMERDES   (Algeria)

^g Medizinisch Genetisches Zentrum   (Germany)

Author keywords

Clinical phenotype; GAN mutations; Giant axonal neuropathy; Gigaxonin

Indexed keywords

GIGAXONIN; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GIANT AXON; GIANT AXONAL NEUROPATHY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; NERVE BIOPSY; NERVE FIBER; NEUROPATHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERONEUS NERVE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION;

EID: 64149126029     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.01.011     Document Type: Article

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