Werdnig-Hoffmann disease: Report of the first case clinically identified and genetically confirmed in Central Africa (Kinshasa-Congo)

Genetic Counseling

Volumn 20, Issue 4, 2009, Pages 349-358

  Lumaka, A ^a   Bone, D ^a   Lukoo, R ^a   Mujinga, N ^a   Senga, I ^a   Tady, B ^a   Matthijs, G ^b   Lukusa, T Prosper ^b  

^a Clinique Universitaire de Kinshasa   (Congo)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Central Africa; Motor neuron defect; SMN1 gene; Spinal muscular atrophy; Werdnig Hoffman disease

Indexed keywords

ANTIBIOTIC AGENT; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ALLELE; ARTICLE; BRONCHITIS; CASE REPORT; CHILD DEATH; CONGO; ELECTROMYOGRAPHY; GENE DELETION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HUMAN TISSUE; INFANT; MALE; MOTOR NERVE CONDUCTION; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEGRO; PHYSIOTHERAPY; POLYMERASE CHAIN REACTION; RESPIRATORY FAILURE; SPINAL MUSCULAR ATROPHY; WERDING HOFFMAN DISEASE;

AFRICAN CONTINENTAL ANCESTRY GROUP; AGE OF ONSET; DEMOCRATIC REPUBLIC OF THE CONGO; ELECTROMYOGRAPHY; FATAL OUTCOME; GENE DELETION; HUMANS; INFANT; MALE; PEDIGREE; SIBLINGS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 76049088893     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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