Table 1.
Causative copy number variants.
| ID | Onset | Symptoms Referred | Muscle Weakness (Distribution) | Serum CK | EMG | Biopsy Findings | Other | Gene | Allele 1 | Allele 2 | Reading Frame |
|---|---|---|---|---|---|---|---|---|---|---|---|
| I | childhood | muscle weakness |
lower limbs | >20X | myopathic | dystrophic features | RF:2950 mL (75%) |
DMD | hem del: exons 45–51 (mat) | - | in frame |
| II | childhood | muscle weakness |
lower limbs | >20X | myopathic | dystrophic features | n.a. | DMD | hem del: exons 45–49 (U) | - | in frame |
| III | - | hyperCKemia | asymptomatic | >20X | n.a. | myopathic features | RF:2550 mL (92%) |
DMD | het del: exons 45–48 (pat) | - | in frame |
| IV | adult | muscle weakness |
lower limbs | >20X | n.a. | dystrophic features | RF:2720 mL (104%) |
DMD | het del: exons 3–7 (de novo) | - | out of frame |
| V | juvenile | epilepsy | mild scapula winging, no muscle weakness |
>20X | n.a. | dystrophic features with partial merosin deficiency (both 80 and 300 kD) | n.a. | LAMA2 | dup: exons 21–55 (pat) | c.5374G>T, p. Glu1792* (ex 37) (mat) |
in frame |
| VI | congenital | psychomotor delay |
normal | normal | n.a. | n.a. | autism | LAMA2 | del: exons 13–37 (pat) | c.6599G>A, p. Arg2200His (ex 47) (mat) |
in frame |
| VII | juvenile | distal weakness |
slight bilateral scapula winging, positive Gowers sign, mild waddling gait, slight atrophy of the right more than left upper > lower limbs |
6–10X | myopathic | n.a. | mild pectus excavatum | LAMA2 | del: exons 13–14 (mat) | c.4312-1G>A p.? (ex 29) (pat) |
out of frame |
| VIII | juvenile | difficulties in walking | lower limbs | >10X | n.a. | n.a. | RF:2400 mL (72%) |
LAMA2 | dup: exons 4–12 (pat) | c.6429+3A>C, p. Iso2144Glnfs7* (ex 45) (mat) |
in frame |
| IX | juvenile | muscle weakness |
proximal, lower > upper limbs | >20X | myopathic | dystrophic features | RF:2720 mL (78%) |
SGCD | del: first coding exon (pat) | del: first coding exon (mat) | in frame |
| X | juvenile | muscle weakness |
proximal | >20X | myopathic | dystrophic features | n.a. | SGCB | del: last 12 codons in exon 6 and 3’ UTR (U) | del: last 12 codons in exon 6 and 3′ UTR (U) | in frame |
| XI | childhood | difficulties in walking | proximal four limbs | >20X | n.a. | dystrophic features | RF:3380 mL (67%) and dilated cardiomyopathy | SGCG | del: exon 7 (mat) | c.124_126delTTC p. Leu41del (ex2) (pat) |
out of frame |
| XII | juvenile | hyposthenia, fatigue | proximal in the lower limbs | normal | mixed | n.a. | n.a. | SPAST | del: exons 10–16 | - | in frame |
Abbreviations: n.a. = not available, CK = creatine kinase, EMG = electromyography, RF = respiratory function, mat = maternal, pat = paternal, U = unknown, het = heterozygous; hem = hemizygous, UTR = untranslated region.