X-linked Infantile Spinal Muscular Atrophy
- 1 February 1988
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Pediatrics & Adolescent Medicine
- Vol. 142 (2) , 217-219
- https://doi.org/10.1001/archpedi.1988.02150020119045
Abstract
• Four male infants from three sibships in an extended family were noted to have hypotonia, areflexia, and congenital joint contractures. The findings of electromyography and muscle histology were consistent with infantile spinal muscular atrophy (SMA). Pedigree analysis suggests that this disorder represents an X-linked, recessive form of SMA. Findings in similar kindreds may explain the previously reported increased male-female ratio in infantile SMA. (AJDC 1988;142:217-219)This publication has 3 references indexed in Scilit:
- Three distinct types of X‐linked arthrogryposis seen in 6 familiesClinical Genetics, 1982
- Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence.Journal of Medical Genetics, 1978
- International collaborative study of the spinal muscular atrophiesJournal of the Neurological Sciences, 1976