. 2021 Jul 9;4(3):232–240. doi: 10.31662/jmaj.2021-0019

Table 4.

Skipping of Mutated In-frame Exons.

Disease	Gene	Exon	Phase	Author, Year
LGMD2B	DYSF	32	P	Barthelemy et al. 2015 ⁽²⁶⁾
Laminopathy	LMNA	5	P	Scharner et al. 2015 ⁽²⁷⁾
Joubert syndrome	CEP290	41	P	Molinari et al. 2019 ⁽³¹⁾
Alport syndrome	COL4A5	21	P	Yamamura et al. 2020 ⁽²⁹⁾
Dystrophic epidermolysis bullosa	COL7A1	73	P	Bornert et al. 2020 ⁽³⁰⁾
CADASIL	NOTCH3	9	P	Gravesteijn et al. 2020 ⁽³²⁾
Mucolipidosis II	GNPTAB	19	P	Matos et al. 2020 ⁽³³⁾
Myotonic dystrophy type1	DMPK	15	P	Stepniak et al. 2020 ⁽³⁴⁾

LGMD2B: limb girdle muscular dystrophy 2B; CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; P: preclinical study