Mots-clés
 > MYOBASE > SANTE > médecine > maladie > maladie par appareil > maladie de l'appareil locomoteur > maladie neuromusculaire > maladie neuromusculaire par protéine > IGHMBP2 (maladie neuromusculaire liée à) > amyotrophie spinale distale de type VI
amyotrophie spinale distale de type VI
Commentaire :
ORPHA 98920
MIM 604320 - Transmission autosomique récessive. - Anomalie du gène IGHMPB2, localisé sur le chromosome 11 (région 11q13.2-13.4) et codant la protéine IGHMBP2, protéine de liaison des immunoglobulines mu. Sources : ORPHANET, OMIM Principales maladies neuromusculaires, Fiche Technique Savoir et Comprendre, AFM , septembre 2012, 6ème édition Avancées médico-scientifiques neuromusculaires, Fiche Technique Savoir et Comprendre, AFM, octobre 2012, 5ème édition Synonyme(s)amyotrophie spinale avec détresse respiratoire ;amyotrophie spinale distale, forme infantile avec paralysie diaphragmatique et détresse respiratoire ;dHMN6 ;dHMNVI ;diaphragmatic spinal muscular atrophy ;distal hereditary motor neuropathy type 1 ;distal hereditary motor neuronopathy type I ;neuropathie motrice héréditaire distale de type 1 ;OMIM : 604320 ;SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE ;SIANRF ;spinal muscular atrophy with respiratory distress ;SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 ;HMN6 ;neuronopathie motrice héréditaire distale de type VI ;distal spinal muscular atrophy type 6 ;ORPHA 98920 ;SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 ;DSMA1 ;SMARD1 ;NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI ;HMN VI ;NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE SPINAL MUSCULAR ATROPHY, DIAPHRAGMATICVoir aussi |
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