GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz, Rebecca
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. [electronic resource] - American journal of medical genetics. Part A 05 2020 - 1167-1176 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural
1552-4833
10.1002/ajmg.a.61544 doi
Charcot-Marie-Tooth Disease--genetics
Child, Preschool
Female
Genetic Predisposition to Disease
Glycine-tRNA Ligase--genetics
Humans
Infant
Infant, Newborn
Male
Muscular Atrophy, Spinal--genetics
Mutation, Missense--genetics
Phenotype
Spinal Muscular Atrophies of Childhood--diagnostic imaging
Survival of Motor Neuron 1 Protein--genetics
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. [electronic resource] - American journal of medical genetics. Part A 05 2020 - 1167-1176 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural
1552-4833
10.1002/ajmg.a.61544 doi
Charcot-Marie-Tooth Disease--genetics
Child, Preschool
Female
Genetic Predisposition to Disease
Glycine-tRNA Ligase--genetics
Humans
Infant
Infant, Newborn
Male
Muscular Atrophy, Spinal--genetics
Mutation, Missense--genetics
Phenotype
Spinal Muscular Atrophies of Childhood--diagnostic imaging
Survival of Motor Neuron 1 Protein--genetics