RT Journal Article
SR Electronic
T1 Chronic spinal muscular atrophy of facioscapulohumeral type.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 285
OP 289
DO 10.1136/jmg.13.4.285
VO 13
IS 4
A1 Furukawa, T
A1 Toyokura, Y
YR 1976
UL http://jmg.bmj.com/content/13/4/285.abstract
AB Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH, distal, ocular, or oculopharyngeal type, has its counterpart of nuclear origin. A classification of the chronic spinal muscular atrophies is suggested following the classification of muscular dystrophy.