Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Table 1 Clinical summary

Patient	Sex	Age of onset	Age at muscle biopsy	Symptoms (when examined)	CK	EMG	Other
FF1
III-6	M	50	74	ll severe, ul mild	400	na
III-8	F	60	69	ll mild, ul mild	187	myopathic
III-12	F	35	47, 63, 72	ll severe, ul moderate	338	myopathic
IV-7	M	34	46, 48	ll moderate, ul moderate	789	myopathic	dysphagia
V-8	M	30	38	ll mild, no ul	820	myopathic
IV-9	F	30	38, 42	ll moderate, ul mild	375	myopathic
IV-10	M	20	44, 49	ll moderate, ul mild	175	myopathic
FF2
III-4	F	50	63	ll mild, no ul	520	myopathic
FF3
IV-1	M	38	49, 51	ll, severe, ul moderate	600	myopathic	dysarthria, ll pain
FF4
III-2	F	40	62	ll mild, slow course	“normal”	myopathic
IV-1	M	28	31	ll mild, ul mild	1900	myopathic
FF5
IV-1	M	30	47	ll severe, ul mild	“normal”	myopathic	dysphagia
FF6
IV-1	M	40	51	ll, severe, ul moderate	800	myopathic

ll, lower limb; ul, upper limb. Clinical findings at the time of clinical examination, within one year of muscle biopsy sample time (or latest biopsy, if many). Creatine kinase (CK) normal upper limits 400 for men, 210 for women

ISSN: 2051-5960