Table I.
List of distal myopathies and causative genes.
| Clinical entity | Gene(s) | Trasmission | References |
|---|---|---|---|
| Adult – late onset distal myopathies | |||
| Welander distal myopathy | TIA1 | AD | Hackman et al., 2012 |
| Digenic SQSTM1 and TIA1 mediated distal myopathy | SQSTM1+TIA1 | DG | Lee et al., 2018 |
| Tibial muscular dystrophy (Udd myopathy) | TTN | AD | Hackman et al., 2002 |
| Vocal cord and pharyngeal distal myopathy | MATR3 | AD | Senderek et al., 2009 |
| Distal Actininopathy | ACTN2 | AD | Savarese et al., 2019 |
| Distal Myopathy with sarcoplasmic bodies | MB | AD | Olive et al., 2019 |
| Oculopharyngeal distal myopathy | NOTCH2NLC, LRP12 and GIPC1 | AD | Deng et al., 2020; Ishiura et al., 2019; Saito et al., 2020; Sone et al., 2019 |
| PLIN4 mutated distal myopathy | PLIN4 | AD | Ruggieri et al. 2020 |
| VCP distal myopathy | VCP | AD | Palmio et al 2011 |
| Myofibrillar distal myopathies | |||
| Distal myopathy with myotilin defect | MYOT | AD | Penisson-Besnier et al., 2006 |
| Late onset distal myopathy (Markesbery-Griggs, Zaspopathy) |
LDB3 | AD | Griggs et al., 2007 |
| Desminopathy | DES | AD > AR | Sjoberg et al., 1999 |
| Alpha-B crystallin-mutated distal myopathy | CRYAB | AD | Reichlich et al. 2010 |
| Early adult onset distal myopathies | |||
| Miyoshi myopathy | DYSF | AR | Liu et al., 1998 |
| Recessive distal titinopathy | TTN | AR | Evila et al., 2017 |
| Distal myopathy with rimmed vacuoles (Nonaka and GNE myopathy) |
GNE | AR | Kayashima et al., 2002 |
| Distal ABD-filaminopathy | FLNC | AD | Duff et al., 2011 |
| DNAJB6 distal myopathy | DNAJB6 | AD | Ruggieri et al., 2015 - Palmio et al., 2020 |
| Rimmed vacuolar neuromyopathy | HSPB8 | AD | Ghaoui et al., 2016 |
| ANO5 distal muscular dystrophy | ANO5 | AR | Bolduc et al., 2010 |
| RYR1 mutated calf predominant distal myopathy | RYR1 | AD/AR | Laughlin et al., 2017 - Jokela et al., 2019 |
| Early-childhood onset distal myopathies | |||
| Early onset distal myopathy (Laing) | MYH7 | AD > AR | Meredith et al., 2004 |
| Early onset distal myopathies with nebulin defect | NEB | AR > AD | Wallgren-Pettersson et al., 2007, Kiiski et al., 2019 |
| Early onset ADSSL distal myopathy | ADSSL | AR | Park et al., 2016 |
| Early onset distal myopathy with KLHL9 mutations | KLHL9 | AD | Cirak et al., 2010 |
| Other myopathies and dystrophies with distal weakness | |||
| Distal myopathy with caveolin defect | CAV3 | AD | Tateyama et al., 2002 |
| DNM2 related distal myopathy | DNM2 | AD | Bitoun et al., 2005 |
AD: autosomal dominant; AR: autosome recessive; DG: digenic