Table 1. Genetic Background of Patients with Limb Girdle Muscular Dystrophy Type 1D.
Reference | NOP | Ethnic origin | Mutation | Phenotypic peculiarity |
---|---|---|---|---|
Kim, et al.1 | 3 | Asian | p.Phe89Ile | None |
Asian | p.Phe100Ile | Lower extremity onset, early onset | ||
Asian | p.Phe100Ile | Bulbar symptoms, distal predominance | ||
Jonson, et al.7 | >4 | Caucasian | p.Asp98del | Distal predominance |
Caucasian | p.Asn95Ile | None | ||
Caucasian | p.Phe93Leu | None | ||
Kojima, et al.8 | 1 | Asian | p.Phe93Leu | None |
Nam, et al.4 | 1 | Asian | p.Phe91Leu | Early onset |
Palmio, et al.9 | 3 | Caucasian | p.Phe91Ile | Early onset, respiratory failure |
1 | Caucasian | p.Phe91Leu | Respiratory failure | |
Ruggieri, et al.2 | 2 | Caucasian | p.Phe91 | Distal onset, early onset |
Caucasian | p.Phe100Val | Distal onset, early onset | ||
Suarez-Cedeno, et al.3 | 1 | Caucasian | p.Phe89Ile | Early onset |
Couthouis, et al.10 | 4 | Caucasian | p.Phe89Ile | None |
Sato, et al.11 | 2 | Asian | p.Phe96Ile | None |
Asian | p.Phe96Leu | None | ||
Harms, et al.6 | 3 | American | p.Pro96Arg | Heal cord contracture, distal dominant |
Sarparanta, et al.5 | 9 | Caucasians | p.Phe93Leu | None |
NOP, number of patients.