Table 1 Presence of Leigh-related missense mutations in samples
From: Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
Genes | Designation | Proband | Mother | Father |
|---|---|---|---|---|
PNPT1 | c.1519G > T; p.Ala507Ser | Het | – | Het |
SYNE1 | c.23315G > A; p.Arg7772Gln | Het | Het | – |
SYNE1 | c.13909G > A; p.Asp4637Asn | Het | Het | – |
ECHS1 | c.713C > T; p.Ala238Val | Homo | – | Het |