Table 1.

Summary of transcripts expressed in brain tissue and altered in human DM1 samples. All genes mentioned are described in the text and represented in alphabetical order. DM1 patients brain sections refer to extraction of total RNA from homogenised brain tissue from DM1 patient autopsy, DM1 patient skeletal muscle biopsy refers to extraction of total RNA from homogenised skeletal muscle biopsy of DM1 patients and DM1 patient-derived myotubes refers to RNA extraction of cultured myoblasts from DM1 patient biopsy differentiated to myotubes in cell culture.

Gene	Splicing Alteration		Reference	Tissue Expression	Implications in DM1 Pathology	Sample Type
	Exon/Intron	Inclusion/Exclusion
APP	Exon 7	Exclusion	Jiang (2004) [85]	Brain	n.d.	DM1 patients brain sections
MAPT	Exon 2	Exclusion	Goodwin (2015) [83]	Brain (frontal cortex)	Progressive appearance of NFTs composed of intraneuronal aggregates of hyperphosphorylated tau protein.	DM1 patients brain sections
	Exon 3	Exclusion
	Exon 10	Exclusion
MBNL1	Exon 6	Inclusion	Dhaenens (2008) [87]	Most tissues	Splicing defects	DM1 patients brain sections
	Exon 8	Inclusion
MBNL2	Exon 7	Inclusion	Nakamori (2013) [29]	Brain	Splicing defects	DM1 patient-derived cultured myotubes
	Exon 8	Inclusion	Yamashita (2012) [86]
NMDAR1	Exon 5	Inclusion	Jiang (2004) [85]	Brain	Memory impairment.	DM1 patients brain sections