Table 2.
Variants of uncertain significance.
| ID | Onset | Symptoms Referred | Muscle Weakness (Distribution) | Serum CK | EMG | Biopsy Findings | Other | CNV (Min Interval) hg19 | Description | Reading Frame |
|---|---|---|---|---|---|---|---|---|---|---|
| XIII | adult | difficulties in walking | lower limbs | 6X | n.a. | n.a. | RF:4330 mL (124%) and atrial septum defect | chr19:51857476-51871484 | het del: ETFB exons 1–2 | n.a. |
| XIV | juvenile | shoulder and pelvic girdle weakness | severe proximal muscle weakness, wheelchair bound | 3X | myopathic | dystrophic features | mild respiratory insufficiency | chr16:83342046-83949780 | het del: CDH13, HSBP1 and MLYCD | n.a. |
| XV | juvenile | proximal weakness | weakness in posterior muscles and quadriceps and distal in lower limbs | N/10X | myopathic | aspecific, internal nuclei | slight cardiac hypertrophy | chr10:69898720-69909802 | het del: MYPN exons 3–5 | out of frame |
| XVI | young adult | limb-girdle weakness | proximal and axial | 15X | n.a. | dystrophic features, neurogenic and myofibrillar damage, partial αDG reduction | dilated cardiomyopathy | chr11:18536283-19213867 | het del: CSRP3 exons 4–7 and 3′UTR | n.a. |
| XVII | congenital | congenital arthrogryposis | none | N | n.a. | fiber type dystroportion | - | chr15:22756504-23088787 | dup: TUBGCP5, CYFIP1, NIPA2 and NIPA1 | n.a. |
| XVIII | juvenile | distal weakness | proximal and distal | N | myopathic | dystrophic features, central nuclei, increased connectival tissue and rare vacuoles | - | chr15:44862731-44900870 | het del: SPG11 exons 18–32 | in frame |
| XIX | childhood | skin problem | proximal and distal, not walking | n.a. | n.a. | n.a. | - | chrX:18910408-30489847 | het del: 34 genes* | n.a. |
| XX | adult | hyperCKemia | proximal | 7X | normal | myopathic features | - | chr17:41050890-41053142 | het del: G6PC exon 1 (pat) | n.a. |
| XXI | young adult | lower limb distal weakness | distal involvement, with steppage, mild-to moderate weakness of trapezius and iliopsoas, mild bulbar involvement, minima facial weakness | N | mixed | core myopathy, desmin accumulation | atrial fibrillation and flutter, bilateral atrial dilatation, right branch block | chr1:26140297-26140584 | dup: SEPN1 exons 11–12 | n.a. |
| XXII | juvenile | muscle weakness | n.a. | 15X | n.a. | core myopathy | - | chr1:164682483-168354339 | het del: 21 genes * | n.a. |
Abbreviations: n.a. = not available, CK = creatine kinase, EMG = electromyography, RF = respiratory function, pat = paternal, DG = dystroglycan, N = normal, het = heterozygous; del = deletion; dup = duplication. * list of genes is available upon request.