Table 1.

Dystrophin Large In-Frame Deletion and Clinical Phenotype

Genotype	% Lost	Level of Expression	Clinical Phenotype	Reference
Full-length	0%	+++	normal	16
Δ17–48	46%	+++	BMD	19
Δ13–47	47%	++ ∼+++	BMD	23
Δ10–44	48%	++	DMD	143
Δ10–44	48%	N/A	BMD	28
Δ10–44	48%	N/A	BMD	28
Δ13–48	49%	N/A	BMD	27
Δ13–48	49%	++ ∼+++	BMD	24
Δ13–48	49%	++	BMD	26
Δ4–41	50%	+	DMD	24
Δ4–41	50%	++	DMD	145
Δ4–41	50%	−	DMD	26
Δ3–41	51%	++	DMD	26
Δ3–41	51%	++	IMD	144
Δ3–41	51%	+	DMD	143
Δ3–42	52%	+	IMD	24
Δ11–48	52%	N/A	DMD	142
Δ5–44	54%	N/A	DMD	28
Δ10–53	60%	N/A	DMD	25
Δ10–53	60%	+++	DMD	141
Δ14–60	61%	N/A	DMD	140
Δ2–50 (Δ2–44)a	63%	++	DMD	139

Abbreviations: BMD, Becker muscular dystrophy; DMD, Duchenne muscular dystrophy; IMD, intermediate muscular dystrophy (clinical phenotype between BMD and DMD); N/A, information not available.

^aThe patient has a Δ2–44 deletion in DNA but a Δ2–50 deletion in mRNA due to alternative splicing.