Table 2 Median Ratio† (H/C) of GM1 fluorescence in lymphocytes from heterozygous GM1 gangliosidosis carriers.

From: Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

Pt

Pt Ph

Nucleotide changes

Amino acid changes

(H/C) Father

(H/C) Mother

(H/C) Son

9

LI

c.1445 G > A

p.Arg482His

3.89

 

—

c.572 G > A

p.Ser191Asn

 

2.52

 

12

J

c.602 G > A

p.Arg201His

—

1.66

—

14

J

c.1471 G > T

Asp491Thr

 

1.23

 

17

A

c.1325 G > A

p.Arg442Gln

—

—

1.45

  1. Legend. Pt = patient; Ph = phenotype (LI = late infantile; J = juvenile; A = adult); - = not assessed; H = heterozygous GM1 gangliosidosis carrier; C = unaffected control. †The ratio is calculated between the median value of the GM1 fluorescence intensity of the patient sample and a control labeled and analyzed during the same FACS session.
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