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letter
. 2018 Sep 5;59(8):1008–1009. doi: 10.3349/ymj.2018.59.8.1008

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.