|
| Reference | Features | Diagnosis | Gene | Mutation | Effect |
|
|
ESDN 01071 | – Fatigue during walking | MED | MATN3 | D176V | Potential misfolding |
| – Muscle disease suspected by paediatrician |
|
|
ESDN 01013 | – Mild proximal muscle weakness at 7 years | MED | COL9A2 | c186G C | Exon skipping |
| – Difficulty rising from squatting position |
|
|
ESDN 01003 | – Mild muscle weakness | MED | COL9A2 | c186 + 4a c | Exon skipping |
|
|
[68] | – Muscle weakness | MED | COL9A2 | c186 2t c | Exon skipping |
| – Suspected (unproven) muscular dystrophy |
| – Problems with standing up from sitting position |
| – Problems walking on stairs |
| – Biopsy: |
| – No morphological or histochemical changes |
| – No fibers with central nuclei |
| – Variation in fiber size |
| – No degradation, regeneration, or necrosis |
| – ATP CrP production from pyruvate |
|
decreased |
|
|
[68] | – Neurological evaluation for abnormal walking | MED | COL9A2 | c186G A | Exon skipping |
|
pattern at 6 years |
| – Proximal muscle weakness lower extremities |
| – Family also affected (father, sister, sister’s |
|
daughter) |
|
|
[54] | – Proximal muscle weakness (reported to the | MED | COL9A3 | IVS2-1, G A | Exon skipping |
|
neuromuscular clinic at 10 years) |
| – Mildly elevated serum creatine kinase (CK) |
|
levels |
| – Difficulty walking and climbing stairs from 3 |
|
years on |
| – Difficulty rising from the floor |
| – Some signs of proximal muscle weakness in |
|
family members |
| – Muscle biopsy: mild variability in fibre size |
|
|
ESDN 00385 | – Some signs of mild myopathy | PSACH | COMP | D326Y | Potential retention (T3 domain mutation) |
| – Gower's sign (proximal muscle weakness) |
| – Waddling gait |
| – Difficulties climbing stairs |
| – CPK normal |
|
ESDN 00430 | – Reported to neurologist at age 2 | MED | COMP | E457del | Potential retention (T3 domain mutation) |
| – Diminished muscle strength in: |
| – Hips |
| – Shoulders |
| – Quadriceps muscle |
| – Feet-lifting muscles |
| – Diagnosed with a myopathy at 5 years |
| – Biopsy inconclusive |
|
|
[55] | – Difficulty walking at 2.5 years | MED | COMP | D605N | Potential misfolding (CTD mutation) |
| – Muscle weakness |
| – Tired easily |
| – Difficulty getting up from sitting |
| – CK levels normal |
| – EMG and nerve conduction velocities normal |
| – Biopsy: |
| – Mild myopathy, |
| – No variability in fibre size |
| – Scattered basophilic fibers |
| – Some small atrophic fibers |
|
| [53, 55] | – Muscle weakness from 3 years on | MED | COMP | R718W | Potential misfolding (CTD mutation) |
| – Referred to neuromuscular clinic at 5 years |
| – Mildly elevated CK levels |
|
