Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

Table 1 Summary of findings in the living members in this family

Patient	Age at onset of symptoms (y)	Age at last evaluation (y)	Severity of weakness	Contractures	Foot deformities	Scoliosis	Cardiac involvement	Disease progression	Central nuclei	Cores in type I fibers	Cores in type II fibers	Type I fibers	Increase of connective tissue	EMG
III.2	30	68	Severe distal	AT contractures	pes cavus	No	Yes	Slow	Yes	Yes	No	Hypo	No	Myopathic
III.3	-	66	-	-	-	-	-	-	-	-	-	-	-	-
III.4	35	61	Severe distal; mild proximal	AT contractures	pes cavus	Yes	No	Slow	Yes	Yes	No	Hypo	Yes	Myopathic
IV.1 ^a	33	34	Moderate distal	No	pes cavus	No	No	Slow	-	-	-	-	NA	Myopathic
IV.2	-	27	-	-	-	-	-	-	-	-	-	-	-	-

Abbreviations: Numbers refer to patients in family tree. y years, EMG electromyography, AT Achille's tendon, m myopathic, hypo hypotrophic, ^a she did not undergo a muscle biopsy

ISSN: 1471-2350