Table 1. Clinical Features and Genetic Findings for DNAJB6 Mutations.

Genotype	References	Region of study	Onset age	Distribution of weakness	Serum CK	Muscle pathology	Bulbar symptoms
p.Phe89Ile	Kim, et al.4	Asia	30–40	Proximal	NL	N/A	None
	Couthouis, et al.5	America	8–18	Proximal	NL	RV	-
	Sarparanta, et al.6	America	20–55	Proximal	NL–10×	Myopathic, RV	Yes
p.Phe91Ile	Palmio, et al.7	Europe	6–13	Proximal	NL–2×	RV, fibrosis, atrophy, myofibrillar aggregations	None
	Ruggieri, et al.2	Europe	16	Proximal	NL	Dystrophic, RV	None
p.Phe91Leu	Nam, et al.1	Asia	8–11	Proximal	NL–2×	RV	None
	Palmio, et al.7	Europe	15	Proximal and distal	NL	RV, Fibrosis, atrophy, myofibrillar aggregations	Yes
	Ruggieri, et al.2	Europe	11	Proximal	NL	Myopathic, RV	Yes
p.Phe93Ile	Sato, et al.8	Asia	30s	Proximal	1.5–5×	Myopathic, RV	None
p.Phe93Leu	Harm, et al.9	America	30–40	Proximal	3–6×	Myopathic, RV	None
	Ruggieri, et al.2	Europe	45	Proximal	NL	Myopathic, RV	None
p.Ans95Ile	Jonson, et al.3	Europe	36–55	Distal	NL–2×	RV	Yes
p.Pro96Arg	Harm, et al.9	African American	18–35	Distal	2×	N/A	None
p.Pro96Leu	Tsai, et al.10	Asia	30–40	Proximal	NL	Fatty change	Yes
p.Asp98del	Jonson, et al.3	Europe	16, 20	Proximal and distal	2×	RV	None
p.Phe100Val	Ruggieri, et al.2	Europe	10–50	Proximal and distal	1.5–4×	RV	Yes
p.Phe100Ile	Kim, et al.4	Asia	17, 27	Proximal and distal	3×	RV	Yes

N/A, not available; NL, normal; RV, rimmed vacuole.