Table 2

Intragenic single nucleotide polymorphism (SNP) haplotypes in the desmin myopathy patient and her parents

Nucleotide No^2-150	Mother		Father		Patient
408	C	T	C	C	C	T
828	C	C	T	C	T	C
1014	G	G	C	G	C	G
1104	G	G	A	G	A	G
A→G mutation	A	A	A	A	G	A

↵2-150 Nucleotide numbers correspond to the GenBank desmin cDNA sequence (AF055081).
Underlined: paternal SNP haplotype, on which the A to G transition has occurred.