Clinical features and GNE genotypes of patients with genetically confirmed GNE-myopathy
| Patient | Sex | Geographical origin | Age | Age at onset | Mode of onset | Foot drop at onset | Quadriceps sparing | Ambulation at last assessment | CK | Allele 1 | Allele 2 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | Scotland | 64 | 10 | R foot drop | Y-U | Y | N | 75 | c.1985C>T, p.Ala662Val | c.1985C>T, p.Ala662Val |
| 2 | M | Scotland | 56 | 37 | Distal and proximal weakness | Y-U | Y | Y | 389–533 | c.1985C>T, p.Ala662Val | c.1985C>T, p.Ala662Val |
| 3 | F | Scotland | 39 | mid-20s | Foot drop | Y-B | Y* | Y† | 417 | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 4 | M | Scotland | 50 | 30 | L foot drop | Y-U | Y | Y | 163 | c.691A>T, p.Ile231Phe | c.1085T>G, p.Val362Gly |
| 5 | F | Scotland | 27 | 18 | Distal and proximal weakness | Y-B | Y | Y | 328 | c.1985C>T, p.Ala662Val | c.740T>C, p.Val247Ala |
| 6 | M | Scotland | 55 | ∼30 | Foot drop | Y-B | Y | Y | 1047 | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 7 | M | Scotland | 49 | 37 | L foot drop | Y-U | Y | Y | 231 | c.1225G>T, p.Asp409Tyr | c.841C>A, p.Leu281Met |
| 8 | F | Scotland | 44 | 36 | Distal and proximal weakness | Y-U | Y* | Y | 288–456 | c.1985C>T, p.Ala662Val | c.1985C>T, p.Ala662Val |
| 9 | F | Scotland | 39 | 14 | Foot drop | Y-B | Y | Y† | ‘normal’ | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 10 | M | Scotland | 49 | 39 | Foot drop | Y-U | Y | Y | 359 | c.1985C>T, p.Ala662Val | c.1985C>T, p.Ala662Val |
| 11 | F | N Ireland | 34 | 31 | Bilateral foot drop (after pregnancy) | Y-B | NS | Y | 166 | c.1985C>T, p.Ala662Val | c.1985C>T, p.Ala662Val |
| 12‡ | M | N Ireland | 57 | 35 | Calf muscle wasting | NS | NS | N | NS | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 13‡ | M | N Ireland | 59 | 27 | Bilateral foot drop | Y-B | N | N | 614 | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 14‡ | F | N Ireland | 62 | 30 | Bilateral foot drop | Y-B | Y | N | 340 | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 15‡ | M | N Ireland | 53 | 20s | Difficulties playing football | NS | Y | Y | 140–1400 | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 16 | M | N Ireland/ India | 48 | 44 | Weak legs | Y-U | NS | Y | 700–1200 | c.2179G>A, p.Val727Met | c.1313dupT, p.Ser439Lysfs*6 |
| 17 | F | N Ireland | 61 | 39 | Severe back and feet pain with unilateral foot drop | Y-U | Y | Y§ | NS | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 18 | F | N Ireland | 55 | 35 | Unilateral foot drop | Y-U | Y | Y | 288 | c.691A>T, p.Ile231Phe | c.805del G, Asp269Metfs*11 |
| 19 | M | ROI | 25 | 22 | Leg weakness | Y-B | Y | Y | 441 | c.1853T>C, p.Ile618Thr | c.331G>T, p.Asp111Tyr |
| 20 | M | N England | 51 | unclear | Bilateral foot drop | Y-B | Y | Y | NS | c.1225G>T, p.Asp409Tyr | c.2179G>A, p.Val727Met |
| 21 | F | N England | 50 | 34 | Bilateral foot drop | Y-B | Y | Y | ‘Marginally raised’ | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 22 | M | N England (ROI) | 42 | 30s | Unilateral wasting and limping | Y-B | Y* | Y | 170 | c.1225G>T, p.Asp409Tyr | c.1985C>T, p.Ala662Val |
| 23 | F | S England | 46 | 30s | Bilateral foot drop | Y-B | Y | Y | 283 | c.479G>A, p.Arg160Gln | c.922C>T, Arg308Cys |
| 24‡ | M | S England | 44 | 20 | Tripping | NS | NS | N | 400 | c.830G>A, p.Arg277Gln | c.1178G>A, p.Gly393Glu |
| 25‡ | M | S England | 42 | early 20s | Distal leg weakness | Y-B | Y* | Y | 309 | c.830G>A, p.Arg277Gln | c.1178G>A, p.Gly393Glu |
| 26 | F | S Pakistan/England | 40 | 32 | Bilateral foot drop and proximal upper limb weakness | Y-B | Y | Y | 485 | c.2179G>A, p.Val727Met | c.256G>A, p.Gly86Arg |
Highlighted in bold are the two common mutations (c.1985C>T, p.Ala662Val and c.1225G>T, p.Asp409Tyr) of the GNE gene. GenBank accession number (NM_001128227.2). Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence.
‡Denotes siblings.
*Quadriceps power not commented on at most recent assessment.
†Using wheelchair to mobilise outdoors.
§Last clinical assessment was in 2008.
B, bilateral; CK, creatine kinase; NS, not stated; ROI, Republic of Ireland; U, unilateral.