Age Sex | Onset | Further weakness distribution | Additional involvements | Mutation | Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Age Symptoms | Proximal | Distal | Axial | Lower limbs | Hip | Cardiac | Respiratory | Base | Protein | ||
58 F | Adult Thigh muscle weakness | ND | ND | Neck flexors | Tibialis anterior (4/5) | Psoas (4/5) | HCM | ND | c.745_746delCGinsGA | p.Arg249Glu | [7] |
40F | Adult Tibialis anterior weakness | No | Yes | No | No | No | No | No | c.1322C > T | p.Thr441Met | [8] |
07 M | Child (Age of 11 months) Walking on the toes | No | Yes | No | No | Hip flexors | Yes | No | c.1322C > T | p.Thr441Met | [5] |
40 F | Child Overall fatigue Lower limb weakness | Deltoids, biceps and triceps (3/5) | Yes | No | Foot dorsiflexion (2/5) Plantar flexors (2/5) | Hip flexors (1/5), abductors and adductors (4/5) | Yes | Yes | c.1370 T > G | p.Ileu457Arg | This study |
39F | Adult Hands onset | Yes | Yes | Yes | No | No | No | No | c.1780C > A | p.Leu594Met | [7] |
53F | Adult Pain and weakness of forearms and lower legs | Yes | Intrinsic muscles of hands (4/5) | ND | Dorsiflexors of the ankle and great toe (4/5) Bilateral hypertrophy of Tibialis anterior | ND | HCM | ND | c.1816G > A | p.Val606Met | [6] |