Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

Table 1

Features and characteristics of patients’ presentation.

	Patient #1	Patient #2	Patient #3	Mother
Phenotype	dSMA-V	dSMA-V	dSMA-V	—
GARS mutation	p.Leu272Arg variant	p.Leu272Arg variant	p.Leu272Arg variant	p.Leu272Arg variant
Age, current	2 years old	4 years old	7 months old	36 years old
Age of onset	10 months	9 months	7 months old	—
Axial and truncal (proximal) weakness	+	+	+	−
Hands/feet extremities (distal) weakness	+	+	+	−
Hypotonia	+	+	+	−
Hyperlaxity	+	+	+	−
Hyporeflexia	+	+	+	−
Respiratory failure	+	−	+	−
Cardiomyopathy	−	−	−	−

dSMA-V: distal spinal muscular atrophy type V; Leu: leucine; Arg: arginine; + present; − absent.