A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21

• Published in: Journal of medical genetics 2004-03, Vol.41 (3), p.224-229
• Main Authors: Takata, R I, Speck Martins, C E, Passosbueno, M R, Abe, K T, Nishimura, A L, Dorvalina Da Silva, M, Monteiro, A, Lima, M I, Kok, F, Zatz, M
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Biopsy; Brazil; Charcot-Marie-Tooth; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, X - genetics; CMT; Congenital diseases; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Deoxyribonucleic acid; DHMN; distal hereditary motor neuronopathy; distal spinal muscular atrophy; DNA; DSMA; European Continental Ancestry Group - genetics; Female; Genes; Genes, Recessive - genetics; Genetic Linkage - genetics; Haplotypes; Haplotypes - genetics; Humans; Letter to JMG; linkage analysis; Male; Medical sciences; Microsatellite Repeats - genetics; Microscopy; Muscular Atrophy, Spinal - diagnosis; Muscular Atrophy, Spinal - genetics; Muscular Atrophy, Spinal - physiopathology; Neurology; new X linked distal spinal muscular atrophy; Paralysis; Pedigree; spinal type of Charcot-Marie-Tooth; Studies
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2003.013201

DSMA Features Inheritance Locus Gene References DSMA-2 Adult onset distal wasting and weakness AD 12q24.3 ? 9 DSMA-4 Severe juvenile AR 11q13 ? 10 DSMA-5 Upper limp predominance AD 7p15 Glycyl tRNA synthetase 6, 11 DSMA-6 Severe infantile form with respiratory distress AR 11q13-21 Immunoglobulin [micro]-binding protein 2 (IGHMBP2) 7, 12 DSMA-7 Adult onset with vocal cord paralysis AD 2q14 ? 13 DSMA Jerash type Juvenile onset with pyramidal features AR 9p21.1-p12 ? 14 Congenital DSMA Congenital non-progressive with contractures AD 12q23-q24 ? 15 AD, autosomal dominant; AR, autosomal recessive. [...]we have mapped a new locus for DSMA at Xq13.1-Xq21.