Genotypes and phenotypes of patients with Lafora disease living in Germany

Table 1 Genotypes of LD patients living in Germany

P. nr.	Variant			Alleles	Ref.
	EPM2A
	NC_000006.11:	NM_005670.3:
1^a	g.146056376 T > C	c.259A > G	p.(Lys87Glu)	Homo.
2^a	g.[146056360_146056366del]; [145,948,631 T > A]	c.[269_275del];[917A > T]	p.[(Lys90Serfs*35);(Asp306Val)]	Comp. het.	[6]
3^a	g.146056345A > C	c.290 T > G	p.(Leu97Arg)	Homo.
4	g.146007412G > A	c.322C > T	p.(Arg108Cys)	Homo.	[1]
5^a	g.145948789delinsTGCATG	c.759delinsCATGCA	p.(Ala254Metfs*33)	Homo.
6^a	g.145948712C > A	c.836G > T	p.(Gly279Val)	Homo.
	EPM2B
	NC_000006.11:	NM_198586.2:
7^a	g.18122453G > A	c.385C > T	p.(Pro129Ser)	Homo.
8, 9	g.18122402C > T	c.436G > A	p.Asp146Asn	Homo.	[2, 7]
10^a	g.[18122402C > T]; [18122108delC]	c.[436G > A];[730delG]	p.[(Asp146Asn);(Val244Serfs*51)]	Comp. het.	[2, 7]
11^a	g.18122255del	c.583del	p.(Asp195Ilefs*37)	Homo.

Patients with novel variants are indicated by a superscripted letter (^a). Annotation based on human reference genome Homo sapiens GRCh37 (hg19)

ISSN: 2524-3489