Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

Neuromuscular Disorders

Volumn 19, Issue 7, 2009, Pages 476-480

  Moroni, Isabella ^a   Morbin, Michela ^a   Milani, Micaela ^a   Ciano, Claudia ^a   Bugiani, Marianna ^a   Pagliano, Emanuela ^a   Cavallaro, Tiziana ^b   Pareyson, Davide ^a   Taroni, Franco ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

Autosomal recessive; Axonal neuropathy; CMT2; GDAP1 gene; Vocal cord palsy

Indexed keywords

ARGININE; ASPARTIC ACID; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; GLUTAMINE; LEUCINE; LYSINE; PHENYLALANINE; TRANSFERASE; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; ITALY; LIMB WEAKNESS; MALE; MISSENSE MUTATION; NERVE BIOPSY; NONSENSE MUTATION; PRIORITY JOURNAL; SURAL NERVE; VOCAL CORD PARALYSIS;

ADOLESCENT; AGE FACTORS; AGE OF ONSET; AMINO ACID SUBSTITUTION; AXONS; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXTREMITIES; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; MALE; MUSCLE WEAKNESS; MUTATION; NERVE TISSUE PROTEINS; PERIPHERAL NERVES; VOCAL CORD PARALYSIS;

EID: 67649652022     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.04.014     Document Type: Article

References (15)

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