Table 1.
Phenotypic characteristics of patients included in the present study
| Family and patient identification | |||||||
|---|---|---|---|---|---|---|---|
|
|
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| Patients with novel desmin mutations | Patients with previously reported destin mutations | ||||||
|
|
|
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| 1-1 | 1-2 | 3 | 4 | 5 | 6 | 7 | |
| Age/Gender | 49/F | 25/M | 46/F | 27/M | 28/F | 24/M | 56/F |
| Age at onset | 25 | 22 | 25 | 25 | 15 | 14 | 36 |
| Distal weakness | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Proximal weakness | Mild | No | Yes | No | Yes | Yes | Yes |
| Nasal voice | Yes | Yes | Yes | No | Yes | Yes | No |
| Ankle contracture | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| AV block | Yes | No | Yes | Yes | Yes | Yes | No |
| Cardiomyopathy | Yes | Yes | Yes | Yes | Yes | Yes | No |
| Respiratory insufficiency | No | No | Yes | No | Yes | Yes | Yes |
| Inheritance | AD | AD | AD | AD | Sporadic | AD | AD |
| Mutation | Pro419Ser | Pro419Ser | Leu392Pro | Ile367Phe | Arg406Trp | Arg406Trp | N366del |
| Other relevant findings | Sudden death at 28 |
Heart transplantation at 15 |
Sudden death at 56 |
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