Table 3 Novel Variations identified in this study by MLPA [Not previously reported in Leiden Muscular Dystrophy Gene Variant Database (1)]

01

DMD050

Exon 52–67 duplicated

In-frame

c.7543-?_9807 + ?dup

A 4-year-old who was initially suspected of having Limb Girdle Muscular Dystrophy (LGMD) based on clinical phenotype was genetically confirmed to have DMD through our investigation. Full Scale IQ (FSIQ) of the patient was 42 (extremely low). Mother was a carrier for similar in-frame duplication spanning exons 52 to 67

02

DMD086

Exon 35–43 duplicated

Out-of-frame

c.4846-?_6290 + ?dup

A 5-year-old who was initially suspected of having Pompe disease (type II glycogen storage disease) was genetically confirmed to have DMD through our study. Short stature and delayed gross motor development accompanied by elevated levels of AST (278 U/L), ALT (284.5 U/L), and CPK (23,000 U/L). The activity of alpha-glucosidase was normal (0.312). The EMG concluded that there were no signs of myopathy

03

DMD066

Exon 1–42 deleted

Effect is difficult to predict

c.-244_6117 + ?del

Two siblings whose FSIQ was 85 and 94, respectively. Additionally, one sibling with the identical variation was reported to have a motor development delay and scored FSIQ-85, but the other sibling did not. Both individuals became wheelchair-bound at the age of 11 years

04

DMD067

05

DMD109

Exon 2–29 deleted

Out-of- frame

c.32-?_4071 + ?del

Familial Case with an affected sibling. Nonetheless, the carrier status of the mother was not assessed as a result of lack of consent