Phenotypic variability in siblings with type III spinal muscular atrophy.
Autosomal recessive spinal muscular atrophy (SMA) shows substantial phenotypic variability, presenting at a variety of ages from infancy to adult life. Diagnostic difficulties may arise because SMA sometimes produces a dystrophic or myopathic phenotype rather than classical neurogenic abnormalities. Two brothers are described who illustrate this principle and highlight the increasing importance of molecular genetics in investigating patients with neuromuscular diseases. The findings are discussed in the light of recent observations in a mouse model of SMA.
Muqit
M M K
MM
Division of Clinical Neurosciences and Psychological Medicine, Imperial College at Charing Cross Hospital, London, UK. r.lane@imperial.ac.uk
Moss
J
J
Sewry
C
C
Lane
R J M
RJ
D000293:Adolescent; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000473:pathology*; D009133:Muscular Atrophy; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D035781:Siblings; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics* / Q000473:pathology*; D014202:Tremor
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins