Hereditary Factors in Infantile Progressive Muscular Atrophy

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development

“…The SMA gene locus [ 32 ] maps to the 5q13 region of chromosome 5 (reviewed in [ 33 ]). Within this region there lies a 500 kilobase (kb) inverted segmental duplication that is unique to human lineages [ 34 , 35 , 36 ].…”

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

“…SMA is an autosomal recessive disorder (Brandt, 1949 ). Linkage analysis (Brzustowicz et al, 1990 ; Gilliam et al, 1990 ; Melki et al, 1990a , b ) along with genetic and physical mapping studies (reviewed in Morrison, 1996 ) identified the SMA locus on the long arm of chromosome 5, specifically in the 5q13 region.…”

Case Reports of Progressive Infantile Muscular Atrophy (Werdnig-Hoffmann) in Fraternal Twins

“…(3,400 gm.) at birth and was noted to have a generalized weakness of the body approximately three weeks after birth which began in the legs and progressed to the trunk, chest, and upper extremi¬ ties, and then to the muscles of the neck and head, with inability to swallow.…”