Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

Neuromuscular Disorders

Volumn 14, Issue 4, 2004, Pages 261-264

  Stojkovic, Tanya ^a   Latour, Philippe ^b   Viet, Ghislaine ^a   De Seze, Jérôme ^a   Hurtevent, Jean François ^a   Vandenberghe, Antoon ^b   Vermersch, P ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b Hopital de l'Antiquaille   (France)

Author keywords

Axonal neuropathy; Charot Marie Tooth disease; Diaphragm paralysis; GDAP1; Vocal cord paralysis

Indexed keywords

THYMIDINE;

ADULT; AREFLEXIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CODON; DEMYELINATING NEUROPATHY; DIAPHRAGM PARALYSIS; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEMALE; FRAMESHIFT MUTATION; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1 GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; KYPHOSCOLIOSIS; MUTATOR GENE; NERVE CONDUCTION; PRIORITY JOURNAL; STOP CODON; VOCAL CORD PARALYSIS;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; ELECTRIC STIMULATION; EVOKED POTENTIALS; FAMILY HEALTH; FEMALE; FRANCE; HUMANS; MUSCLES; MUTATION; NERVE TISSUE PROTEINS; NEURAL CONDUCTION; REACTION TIME; RESPIRATORY PARALYSIS; SIBLINGS; THYMIDINE; VOCAL CORD PARALYSIS;

EID: 1542298938     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.01.003     Document Type: Article

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